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
KIAA0895	23366	broad.mit.edu	37	7	36396509	36396509	+	Missense_Mutation	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:36396509A>C	ENST00000415803.2	-	2	1160	c.830T>G	c.(829-831)gTa>gGa	p.V277G	KIAA0895_ENST00000338533.5_Splice_Site|KIAA0895_ENST00000436884.1_Splice_Site|KIAA0895_ENST00000297063.6_Splice_Site|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Splice_Site|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000317020.6_Splice_Site			Q8NCT3	K0895_HUMAN	KIAA0895	290										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATGGCATTTTACCTGCTTAAG	0.338000													4	110					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965513	25965513	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:25965513C>T	ENST00000435504.4	-	13	3986	c.3693G>A	c.(3691-3693)gtG>gtA	p.V1231V	ASXL2_ENST00000272341.4_Silent_p.V714V|ASXL2_ENST00000404843.1_Silent_p.V714V|ASXL2_ENST00000336112.4_Silent_p.V1203V			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	1231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCAGCCTTCACATTCTTGC	0.458000													9	62					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12569538	12569538	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:12569538G>C	ENST00000425538.1	+	1	233	c.33G>C	c.(31-33)ctG>ctC	p.L11L	MYOCD_ENST00000343344.4_Silent_p.L11L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	11					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ATTCCTTGCTGATTAGGAGCA	0.507000													8	24					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43783911	43783911	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:43783911G>C	ENST00000263801.3	-	4	564	c.312C>G	c.(310-312)atC>atG	p.I104M	TP53BP1_ENST00000382044.4_Missense_Mutation_p.I109M|TP53BP1_ENST00000450115.2_Missense_Mutation_p.I109M|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I109M	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	104					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGACCTGACTGATGGAACCAC	0.358000								Other conserved DNA damage response genes					20	108					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240312	3240312	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:3240312C>T	ENST00000217939.6	-	5	3568	c.3414G>A	c.(3412-3414)ccG>ccA	p.P1138P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1138						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTGGATGACGGAGCAACTT	0.527000													4	98					0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62370239	62370239	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62370239G>C	ENST00000394773.2	-	21	2786	c.2479C>G	c.(2479-2481)Cgt>Ggt	p.R827G	EML3_ENST00000531557.1_Missense_Mutation_p.R610G|EML3_ENST00000494176.2_Missense_Mutation_p.S762W|EML3_ENST00000278845.4_Missense_Mutation_p.R828G|EML3_ENST00000529309.1_Missense_Mutation_p.S790W	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	827						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ACCTTGGCACGAGCGCACGGG	0.706000													18	10					0	0	1	0	0
C6orf106	64771	broad.mit.edu	37	6	34664339	34664339	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:34664339C>T	ENST00000374023.3	-	1	285	c.42G>A	c.(40-42)caG>caA	p.Q14Q	C6orf106_ENST00000374026.3_Silent_p.Q14Q|RP11-140K17.3_ENST00000606971.1_RNA	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	14										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AGCTGAACTTCTGCATCAGCT	0.662000													5	28					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058328	19058328	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:19058328G>C	ENST00000380502.3	-	16	2904	c.2437C>G	c.(2437-2439)Cta>Gta	p.L813V	HAUS6_ENST00000380496.1_Missense_Mutation_p.L677V	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	813					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACATCTTCTAGAAGAGTGCCA	0.428000													14	58					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055511	154055511	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:154055511C>G	ENST00000389740.2	-	4	2272	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	725						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTTTCTTCCTCTCTTTTTCTG	0.428000													11	147					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80445998	80445998	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:80445998G>C	ENST00000309794.11	+	11	1534	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	NARF_ENST00000345415.7_Missense_Mutation_p.E398Q|NARF_ENST00000390006.4_Missense_Mutation_p.E387Q|NARF_ENST00000457415.3_Missense_Mutation_p.E492Q	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor							lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCAGAGCCAGGAGCGTGGCAC	0.627000													5	167					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169294823	169294823	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:169294823G>C	ENST00000511577.1	-	35	5017	c.4770C>G	c.(4768-4770)atC>atG	p.I1590M	DDX60L_ENST00000260184.7_Missense_Mutation_p.I1590M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1590							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTACCTGGTTGATAGTCTCTG	0.413000													26	137					0	0	1	0	0
TAF6	6878	broad.mit.edu	37	7	99706121	99706121	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:99706121C>T	ENST00000344095.4	-	13	1852	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	TAF6_ENST00000453269.2_Missense_Mutation_p.D443N|TAF6_ENST00000472509.1_Missense_Mutation_p.D500N|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000452041.1_Missense_Mutation_p.D443N|TAF6_ENST00000418432.2_Missense_Mutation_p.D367N|TAF6_ENST00000437822.2_Missense_Mutation_p.D480N	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	443					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTGATTGTCAGGCGGTGGG	0.602000													17	167					0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135518204	135518204	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:135518204G>C	ENST00000341911.5	+	10	1508	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	MYB_ENST00000534121.1_Missense_Mutation_p.E421Q|MYB_ENST00000367814.4_Intron|MYB_ENST00000442647.2_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.E434Q|MYB_ENST00000531845.1_Intron|MYB_ENST00000527615.1_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000534044.1_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	416	Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding	p.E437*(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCAGCAAAGAGAGGGCAATGG	0.473000			T	NFIB	adenoid cystic carcinoma								24	69					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9805978	9805978	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:9805978C>G	ENST00000256190.8	-	38	5376	c.5239G>C	c.(5239-5241)Gag>Cag	p.E1747Q	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000525636.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1747	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AGTGTTCCCTCAAAGGACCTA	0.383000													8	31					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41547811	41547811	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:41547811C>T	ENST00000396942.1	-	33	4121	c.4038G>A	c.(4036-4038)gcG>gcA	p.A1346A	ANK1_ENST00000265709.8_Silent_p.A1387A|ANK1_ENST00000379758.2_Silent_p.A1346A|ANK1_ENST00000347528.4_Silent_p.A1346A|ANK1_ENST00000396945.1_Silent_p.A1346A|ANK1_ENST00000352337.4_Silent_p.A1346A|ANK1_ENST00000289734.7_Silent_p.A1346A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1346					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A1346A(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTACTTCATCGCCTTGCGCA	0.597000													12	56					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21427442	21427442	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:21427442C>T	ENST00000313654.9	+	32	4187	c.3946C>T	c.(3946-3948)Cgg>Tgg	p.R1316W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1316W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1316	Domain III B.|Laminin EGF-like 10.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTGTGGTCGGCGCCTTTG	0.617000													5	56					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258119	57258119	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:57258119C>G	ENST00000343433.6	-	2	447	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	123										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTGATTATCTCAACATTTGAT	0.423000													18	260					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53185160	53185160	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53185160C>A	ENST00000417996.2	-	7	1439	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	KRT3_ENST00000309505.3_Missense_Mutation_p.M455I	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	455	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCTTGAGGGCCATCTCTCCAT	0.617000													7	92					0.00198382	0.00203771	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32738130	32738130	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:32738130C>A	ENST00000421745.2	+	54	10611	c.10477C>A	c.(10477-10479)Cat>Aat	p.H3493N		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3493					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCTCCTTCTCATTTGCACTG	0.453000													6	62					0.00116845	0.00120541	1	1	0
MT1L	4500	broad.mit.edu	37	16	56651456	56651456	+	RNA	SNP	C	C	A	rs80248054	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:56651456C>A	ENST00000565768.1	+	0	69					NR_001447.2				metallothionein 1L (gene/pseudogene)																		TCGCCTCTCCCGTCATTTCTT	0.632000													9	32					0.0477658	0.0483401	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25619794	25619794	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:25619794G>C	ENST00000329474.6	+	37	4467	c.4099G>C	c.(4099-4101)Gag>Cag	p.E1367Q	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1367					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCAGAAAAAGAGTTTATTTT	0.483000													9	66					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681203	161681203	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:161681203C>A	ENST00000540926.1	+	4	749	c.456C>A	c.(454-456)atC>atA	p.I152I	FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Silent_p.I152I|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Silent_p.I146I|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000236938.6_Silent_p.I163I|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Silent_p.I169I|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	146	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCAGTGGCATCTTCCAGAGCC	0.577000													4	110					0.00024832	0.000259354	1	1	0
USP13	8975	broad.mit.edu	37	3	179470094	179470094	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:179470094C>T	ENST00000263966.3	+	14	2202	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	USP13_ENST00000482333.1_Intron|USP13_ENST00000496897.1_Silent_p.F512F	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	577					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTGCTTCATTCCCTGAATACT	0.368000													8	83					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170145611	170145611	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:170145611C>G	ENST00000263816.3	-	9	1252	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	LRP2_ENST00000443831.1_Missense_Mutation_p.E323Q	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	323	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TACGGCGTCTCATGGCACTGG	0.493000													11	68					0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100451411	100451411	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:100451411C>G	ENST00000240851.4	+	5	815	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	TFG_ENST00000476228.1_Missense_Mutation_p.Q159E|TFG_ENST00000418917.2_Missense_Mutation_p.Q159E|TFG_ENST00000490574.1_Missense_Mutation_p.Q159E	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	159					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	p.Q159*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ACAGTCTACTCAGGTTATGGC	0.348000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""								7	57					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103495519	103495519	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:103495519C>G	ENST00000372588.4	-	4	694	c.611G>C	c.(610-612)aGa>aCa	p.R204T		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	204					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						AGCAGTGTTTCTCAACATTAG	0.463000													12	110					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5905694	5905694	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:5905694G>A	ENST00000378961.4	+	5	2237	c.2033G>A	c.(2032-2034)tGa>tAa	p.*678*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	0						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAAGGGGCTGACTGTCATTG	0.438000													7	28					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153840106	153840106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:153840106C>T	ENST00000356448.4	+	2	609	c.325C>T	c.(325-327)Cga>Tga	p.R109*	ARHGEF26_ENST00000465817.1_Nonsense_Mutation_p.R109*|ARHGEF26_ENST00000465093.1_Nonsense_Mutation_p.R109*	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	109	Pro-rich.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TCCTCGACTTCGACGGCCCAA	0.697000													5	59					0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38518910	38518910	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:38518910C>T	ENST00000352511.4	+	2	657	c.185C>T	c.(184-186)tCc>tTc	p.S62F		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TGCTACGCCTCCTGGCGCAAC	0.602000													14	62					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43097875	43097875	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:43097875C>G	ENST00000244336.5	-	2	343	c.242G>C	c.(241-243)gGa>gCa	p.G81A	CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	81	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TATTACATATCCTATAATTCG	0.493000													11	361					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148709297	148709297	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:148709297G>C	ENST00000296721.4	+	16	1977	c.1879G>C	c.(1879-1881)Gag>Cag	p.E627Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.E627Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	627							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAGAAAAAGAGAAGCTGGA	0.522000													5	21					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472827	66472827	+	Silent	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:66472827T>C	ENST00000533211.1	-	15	2251	c.1920A>G	c.(1918-1920)tcA>tcG	p.S640S	SPTBN2_ENST00000529997.1_Silent_p.S640S|SPTBN2_ENST00000309996.2_Silent_p.S640S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	640					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						AGAGCCGCCGTGATTCCTCCA	0.697000													24	26					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43161484	43161484	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:43161484G>T	ENST00000509634.1	+	4	961	c.505G>T	c.(505-507)Gag>Tag	p.E169*	ZNF131_ENST00000399534.1_Nonsense_Mutation_p.E169*|ZNF131_ENST00000306938.4_Nonsense_Mutation_p.E169*|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Nonsense_Mutation_p.E169*|ZNF131_ENST00000505606.2_Nonsense_Mutation_p.E169*			P52739	ZN131_HUMAN	zinc finger protein 131	169						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTTGAAATTGAGGTAGAGAT	0.423000													6	120					3.59834e-05	3.7993e-05	1	1	0
ASAP2	8853	broad.mit.edu	37	2	9540173	9540173	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:9540173G>A	ENST00000281419.3	+	25	3046	c.2706G>A	c.(2704-2706)ctG>ctA	p.L902L	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Silent_p.L857L	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	902	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCACCCCACTGACCAACAAAG	0.502000													7	50					0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52245381	52245381	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:52245381C>T	ENST00000394965.2	+	10	1773	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	ALAS1_ENST00000484952.1_Silent_p.F471F|ALAS1_ENST00000469224.1_Silent_p.F471F|ALAS1_ENST00000310271.2_Silent_p.F471F	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	471					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGGCTTCATCTTCACCA	0.597000													8	35					0	0	1	0	0
MED28	80306	broad.mit.edu	37	4	17616418	17616418	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:17616418G>C	ENST00000237380.7	+	1	165	c.141G>C	c.(139-141)gaG>gaC	p.E47D		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						TGGTGGACGAGTTGGAGTCAT	0.577000													13	124					0	0	1	0	0
CPNE3	8895	broad.mit.edu	37	8	87552521	87552521	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:87552521C>G	ENST00000521271.1	+	8	754	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	CPNE3_ENST00000198765.4_Missense_Mutation_p.L198V	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	198	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CAAGATCTCTCTTAACTCACT	0.299000													10	96					0	0	1	0	0
PSMB3	5691	broad.mit.edu	37	17	36912175	36912175	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:36912175G>T	ENST00000225426.4	+	3	319	c.228G>T	c.(226-228)ttG>ttT	p.L76F		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	76					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|interspecies interaction between organisms|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	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						TGTATGAGTTGAAGGAAGGTC	0.478000													15	88					5.3912e-06	5.76934e-06	1	1	0
NCOA1	8648	broad.mit.edu	37	2	24930089	24930089	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:24930089G>C	ENST00000405141.1	+	14	2461	c.1750G>C	c.(1750-1752)Gat>Cat	p.D584H	NCOA1_ENST00000538539.1_Missense_Mutation_p.D584H|NCOA1_ENST00000288599.5_Missense_Mutation_p.D584H|NCOA1_ENST00000348332.3_Missense_Mutation_p.D584H|NCOA1_ENST00000395856.3_Missense_Mutation_p.D584H|NCOA1_ENST00000406961.1_Missense_Mutation_p.D584H|NCOA1_ENST00000407230.1_Missense_Mutation_p.D433H			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	584	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGTCCAAAGATAACAAAGA	0.423000			T	PAX3	alveolar rhadomyosarcoma								5	69					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40084524	40084524	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:40084524A>G	ENST00000373233.3	-	19	3102	c.2925T>C	c.(2923-2925)tgT>tgC	p.C975C	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	975					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGTCTTCTTCACAGAACTTGG	0.507000													21	251					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58978465	58978465	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:58978465G>C	ENST00000361050.3	-	1	1959	c.1874C>G	c.(1873-1875)tCc>tGc	p.S625C		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	625						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTGGGTCTGGGAGTCTTTAAT	0.572000													12	190					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418472	55418472	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:55418472C>T	ENST00000312422.2	+	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGTTTTCTTTCTTCTACATAA	0.388000													28	99					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071115	9071115	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9071115G>C	ENST00000397910.4	-	3	16534	c.16331C>G	c.(16330-16332)tCa>tGa	p.S5444*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5446	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGATGTCTCTGAGTCAGCTAG	0.493000													26	262					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9550074	9550074	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:9550074C>T	ENST00000400556.3	-	18	2596	c.2523G>A	c.(2521-2523)cgG>cgA	p.R841R	PPP4R1_ENST00000400555.3_Silent_p.R824R	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	841					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						CAAAGGCTTGCCGACCAGACC	0.507000													4	141					0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46111120	46111120	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:46111120G>C	ENST00000321037.4	+	4	1335	c.1105G>C	c.(1105-1107)Gat>Cat	p.D369H		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	369						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAACATTGTGGATATTTATCC	0.418000													4	101					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49012274	49012274	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49012274G>C	ENST00000356401.4	+	10	1252	c.913G>C	c.(913-915)Gag>Cag	p.E305Q	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.E305Q	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	305					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CATCTGCATTGAGAAGAATGG	0.483000													8	67					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3237075	3237075	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:3237075G>C	ENST00000355072.5	+	62	8666	c.8521G>C	c.(8521-8523)Gag>Cag	p.E2841Q	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2841					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTACCTCATTGAGAACTATCC	0.552000													5	72					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49576466	49576466	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:49576466G>A	ENST00000244051.1	+	1	1104	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	363	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GGTGGAGGTGGACATTTGTCG	0.527000													10	272					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170592471	170592471	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:170592471G>A	ENST00000366756.3	-	9	2229	c.1896C>T	c.(1894-1896)ttC>ttT	p.F632F		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	632					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCGGGCCTTGAAGCCATTCT	0.602000													9	80					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184295481	184295481	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:184295481G>A	ENST00000330394.2	+	7	1967	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	505	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.M505I(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CCAGCCAGATGAACTCCGTGC	0.657000													15	121					0	0	1	0	0
PARN	5073	broad.mit.edu	37	16	14676060	14676060	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:14676060G>A	ENST00000437198.2	-	17	1311	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	PARN_ENST00000420015.2_Silent_p.F344F|PARN_ENST00000341484.7_Silent_p.F329F|PARN_ENST00000539279.1_Silent_p.F215F	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	390					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						CCATGGAGATGAAGCACAGCC	0.478000													5	142					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107492213	107492213	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:107492213G>C	ENST00000415149.2	+	11	1972	c.1645G>C	c.(1645-1647)Gag>Cag	p.E549Q	BBX_ENST00000402543.1_Missense_Mutation_p.E549Q|BBX_ENST00000325805.8_Missense_Mutation_p.E549Q|BBX_ENST00000406780.1_Missense_Mutation_p.E549Q|BBX_ENST00000416476.2_Intron	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CACCACCAAAGAGTCAAGACC	0.418000													6	67					0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89245823	89245823	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:89245823G>A	ENST00000289746.2	+	2	107		c.e2-1		CDH15_ENST00000521087.1_Splice_Site	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)						adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTTTGTTGCAGAGCCTCTGCC	0.701000													18	72					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439920	42439920	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:42439920C>T	ENST00000397272.3	-	12	1197	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R367Q	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	367	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGACATGGCTCGGGTTCCACC	0.552000													12	80					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27876122	27876122	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:27876122G>C	ENST00000374011.2	-	6	3473	c.2505C>G	c.(2503-2505)ctC>ctG	p.L835L	AHDC1_ENST00000247087.5_Silent_p.L835L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	835							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		AGCCGGTGAAGAGGTTTTGGC	0.632000													19	87					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75848596	75848596	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:75848596G>A	ENST00000322507.8	-	28	5348	c.5039C>T	c.(5038-5040)tCa>tTa	p.S1680L	COL12A1_ENST00000483888.2_Missense_Mutation_p.S1680L|COL12A1_ENST00000345356.6_Missense_Mutation_p.S516L|COL12A1_ENST00000416123.2_Missense_Mutation_p.S1680L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1680	Fibronectin type-III 12.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGACACATCTGAAGCTCCATG	0.438000													4	36					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15942854	15942854	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:15942854C>G	ENST00000268712.3	-	44	7105	c.6848G>C	c.(6847-6849)gGa>gCa	p.G2283A	NCOR1_ENST00000395851.1_Missense_Mutation_p.G2180A|NCOR1_ENST00000395857.3_Missense_Mutation_p.G867A	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2283	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATGACAACTCCATGATCCTC	0.507000													8	36					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51664905	51664905	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:51664905C>G	ENST00000409535.2	+	6	908	c.783C>G	c.(781-783)gtC>gtG	p.V261V	RAD54L2_ENST00000296477.3_5'UTR	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGGAAAATGTCTTCCTTGCCC	0.493000													8	43					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7141712	7141712	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7141712C>G	ENST00000341500.5	-	12	2661	c.2622G>C	c.(2620-2622)gtG>gtC	p.V874V	INSR_ENST00000302850.5_Silent_p.V886V	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	886	Fibronectin type-III 3.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCGATAACTCACTTCATACA	0.527000													3	48					0	0	1	0	0
CEP44	80817	broad.mit.edu	37	4	175237430	175237430	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:175237430G>A	ENST00000503780.1	+	10	1489	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	CEP44_ENST00000426172.1_Missense_Mutation_p.E359K|CEP44_ENST00000296519.4_Missense_Mutation_p.E359K|CEP44_ENST00000457424.2_Missense_Mutation_p.E359K	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	359						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						TGGTTTGAATGAGATTTCAGA	0.368000													19	24					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988595	33988595	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:33988595G>A	ENST00000389232.4	+	39	6107	c.6037G>A	c.(6037-6039)Gac>Aac	p.D2013N	RYR3_ENST00000415757.3_Missense_Mutation_p.D2013N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2013	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTGTAAGCGACACCATCAA	0.582000													10	54					0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	98896816	98896816	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:98896816G>A	ENST00000376581.5	+	3	279	c.243G>A	c.(241-243)atG>atA	p.M81I	FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron	NM_001001715.2	NP_001001715.2	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	0	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GATGCTCCATGAAGCCCAAGC	0.493000													4	56					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96949446	96949446	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:96949446G>C	ENST00000323853.5	-	33	4667	c.4590C>G	c.(4588-4590)ttC>ttG	p.F1530L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1530						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCTGATGTTGAAGCCCTGGC	0.547000													29	145					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488365	121488365	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:121488365G>A	ENST00000296600.4	+	2	1063	c.680G>A	c.(679-681)tGt>tAt	p.C227Y	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	227						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		TGCTACATATGTGGTAAGGAA	0.502000													6	90					0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130714927	130714927	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:130714927A>G	ENST00000510168.1	+	23	2648	c.2098A>G	c.(2098-2100)Aaa>Gaa	p.K700E	ATP2C1_ENST00000422190.2_Missense_Mutation_p.K700E|ATP2C1_ENST00000513801.1_Missense_Mutation_p.K684E|ATP2C1_ENST00000393221.4_Missense_Mutation_p.K734E|ATP2C1_ENST00000504381.1_Missense_Mutation_p.K645E|ATP2C1_ENST00000428331.2_Missense_Mutation_p.K700E|ATP2C1_ENST00000505330.1_Missense_Mutation_p.K684E|ATP2C1_ENST00000508532.1_Missense_Mutation_p.K700E|ATP2C1_ENST00000328560.8_Missense_Mutation_p.K700E|ATP2C1_ENST00000533801.2_Missense_Mutation_p.K695E|ATP2C1_ENST00000359644.3_Missense_Mutation_p.K700E|ATP2C1_ENST00000504948.1_Missense_Mutation_p.K684E|ATP2C1_ENST00000507488.2_Missense_Mutation_p.K684E			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	700					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TAATAACATTAAAAATTTCGT	0.294000									Hailey-Hailey disease				10	117					0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58186733	58186733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:58186733C>T	ENST00000483681.1	-	7	1118	c.537G>A	c.(535-537)tgG>tgA	p.W179*	DNASE1L3_ENST00000486455.1_Nonsense_Mutation_p.W149*|DNASE1L3_ENST00000318316.3_Nonsense_Mutation_p.W179*|DNASE1L3_ENST00000394549.2_Nonsense_Mutation_p.W179*			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	179					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CCTCCGCCTTCCAGCGGTGTT	0.567000													11	151					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585830	33585830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:33585830G>T	ENST00000299977.4	+	2	269	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	SLFN5_ENST00000542451.1_Nonsense_Mutation_p.E41*|SLFN5_ENST00000592325.1_Nonsense_Mutation_p.E41*	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	41					cell differentiation		ATP binding	p.E41*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GAAACAGAATGAAATCATCCT	0.488000													7	110					0.00198382	0.00203771	1	1	0
HADH	3033	broad.mit.edu	37	4	108911150	108911150	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:108911150C>G	ENST00000403312.1	+	1	281	c.239C>G	c.(238-240)tCg>tGg	p.S80W	HADH_ENST00000603302.1_Missense_Mutation_p.S21W|HADH_ENST00000309522.3_Missense_Mutation_p.S21W|HADH_ENST00000505878.1_5'UTR	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	21					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	GCCTCGGCCTCGGCCAAGAAG	0.687000													7	21					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46806159	46806159	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:46806159G>A	ENST00000529230.1	-	17	2079	c.2033C>T	c.(2032-2034)tCa>tTa	p.S678L	CKAP5_ENST00000415402.1_Missense_Mutation_p.S678L|CKAP5_ENST00000354558.3_Missense_Mutation_p.S678L|CKAP5_ENST00000312055.5_Missense_Mutation_p.S678L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	678					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						AACCTGAGCTGACGTTTTGGA	0.413000													16	124					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119228216	119228216	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:119228216C>G	ENST00000260187.2	-	11	1880	c.1586G>C	c.(1585-1587)aGa>aCa	p.R529T	USP2_ENST00000455332.2_Missense_Mutation_p.R286T|USP2_ENST00000525735.1_Missense_Mutation_p.R320T	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	529					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGCAAATTCTCTTAAGTCCAG	0.522000													9	135					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45266520	45266520	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:45266520C>T	ENST00000372201.4	+	2	458	c.219C>T	c.(217-219)ttC>ttT	p.F73F	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	73	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGGGGGGCTTCGCCCGCTGCT	0.692000													8	34					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2104043	2104043	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:2104043G>C	ENST00000382203.1	+	23	3375	c.3166G>C	c.(3166-3168)Gat>Cat	p.D1056H	SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1056H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1056H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1056H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1056	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAGCTGCTTGATCGTATTCT	0.418000													38	93					0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183506339	183506339	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:183506339C>G	ENST00000367537.3	+	12	1505	c.1310C>G	c.(1309-1311)tCa>tGa	p.S437*	SMG7_ENST00000456731.2_Nonsense_Mutation_p.S366*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.S408*|SMG7_ENST00000507469.1_Nonsense_Mutation_p.S408*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.S366*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.S408*			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	408					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GAGGACCTCTCAAGTATTAGT	0.388000													20	18					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44083220	44083220	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:44083220C>T	ENST00000359947.4	+	24	4516	c.4176C>T	c.(4174-4176)gtC>gtT	p.V1392V	PTPRF_ENST00000422171.2_Silent_p.V751V|PTPRF_ENST00000372413.3_Silent_p.V1383V|PTPRF_ENST00000438120.1_Silent_p.V1383V|PTPRF_ENST00000372414.3_Silent_p.V1392V|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1392	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACTCTCGAGTCATCCTTACCT	0.552000													48	270					0	0	1	0	0
ACTR1A	10121	broad.mit.edu	37	10	104245387	104245387	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:104245387G>C	ENST00000369905.4	-	5	482	c.419C>G	c.(418-420)tCc>tGc	p.S140C	ACTR1A_ENST00000487599.1_Missense_Mutation_p.S140C|ACTR1A_ENST00000446605.2_Missense_Mutation_p.S93C|ACTR1A_ENST00000545684.1_Missense_Mutation_p.S66C	NM_005736.3	NP_005727.1	P61163	ACTZ_HUMAN	ARP1 actin-related protein 1 homolog A, centractin alpha (yeast)	140					G2/M transition of mitotic cell cycle|vesicle-mediated transport	centrosome|cytosol|dynactin complex	ATP binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	13		Colorectal(252;0.122)		Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AGCTTGCATGGAGATGAAAAG	0.567000													14	81					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68071328	68071328	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:68071328C>T	ENST00000262210.5	+	19	2510	c.2479C>T	c.(2479-2481)Cag>Tag	p.Q827*	CSPP1_ENST00000412460.1_Nonsense_Mutation_p.Q482*|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	862	Glu-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTGCAACTTCAGCACTACTG	0.343000													7	120					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091769	147091769	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:147091769G>A	ENST00000234739.3	+	8	2548	c.1808G>A	c.(1807-1809)cGa>cAa	p.R603Q		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	603	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCAGATGGTCGAAATTTTCCT	0.532000			T	"""IGH@, IGL@"""	B-ALL								27	97					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4741622	4741622	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:4741622G>C	ENST00000302640.8	+	34	4838	c.4488G>C	c.(4486-4488)ttG>ttC	p.L1496F	ITPR1_ENST00000443694.2_Missense_Mutation_p.L1496F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.L1502F|ITPR1_ENST00000354582.6_Missense_Mutation_p.L1511F|ITPR1_ENST00000456211.2_Missense_Mutation_p.L1487F|ITPR1_ENST00000357086.4_Missense_Mutation_p.L1502F	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1511					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTACGACTTTGCAGGTAAGAA	0.418000													6	65					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105664873	105664873	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:105664873C>G	ENST00000542731.1	+	15	2231	c.2123C>G	c.(2122-2124)tCt>tGt	p.S708C	CDHR3_ENST00000317716.9_Missense_Mutation_p.S708C|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Missense_Mutation_p.S620C|CDHR3_ENST00000343407.5_Missense_Mutation_p.I210M			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	708					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TACTCTCCATCTGCATGGTAC	0.512000													6	39					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10367866	10367866	+	Missense_Mutation	SNP	G	G	A	rs145268566	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:10367866G>A	ENST00000255381.2	-	7	681	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	191	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGATGACACGCTTCGTGTTC	0.433000													5	56					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99347205	99347205	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:99347205A>G	ENST00000369244.2	-	7	1684	c.1256T>C	c.(1255-1257)tTc>tCc	p.F419S	FBXL4_ENST00000229971.1_Missense_Mutation_p.F419S	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	419					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		AATGTGGTTGAAAGCTTGAGG	0.373000													5	56					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23200787	23200787	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:23200787G>A	ENST00000300061.2	+	3	556	c.413G>A	c.(412-414)cGa>cAa	p.R138Q		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	138					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CGGAAGCGCCGAGAGGCGGAG	0.587000													29	159					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007433	131007433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:131007433G>A	ENST00000307968.7	-	13	2619	c.2620C>T	c.(2620-2622)Cag>Tag	p.Q874*	FNIP1_ENST00000510461.1_Nonsense_Mutation_p.Q902*|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Nonsense_Mutation_p.Q857*	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGGTCCTGCTGAGGAAAGCAG	0.363000													5	44					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293681	33293681	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:33293681G>A	ENST00000280979.4	+	13	6832	c.6662G>A	c.(6661-6663)aGa>aAa	p.R2221K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2221					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TCTCAGGAAAGAGCTGAGGTT	0.443000													10	40					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68030493	68030493	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:68030493C>G	ENST00000262210.5	+	12	1523	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	CSPP1_ENST00000412460.1_Missense_Mutation_p.L204V	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	533	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATTGCACCTCTGCCTCCACC	0.368000													35	116					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124132422	124132422	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:124132422G>C	ENST00000360013.3	+	14	2573	c.2446G>C	c.(2446-2448)Gaa>Caa	p.E816Q	KALRN_ENST00000240874.3_Missense_Mutation_p.E816Q|KALRN_ENST00000460856.1_Missense_Mutation_p.E816Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	816					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGCCACACAGAACGGAAGCT	0.547000													6	46					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969487	140969487	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:140969487C>T	ENST00000298296.1	+	4	814	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	272	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)					GGGCATGCCCCAGAACCGCCT	0.498000													27	93					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114148667	114148667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:114148667G>A	ENST00000259335.4	-	33	4050	c.4051C>T	c.(4051-4053)Cga>Tga	p.R1351*	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.R1173*	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CTGGATTCTCGAACTCGCCAC	0.289000													4	16					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160732032	160732032	+	Missense_Mutation	SNP	C	C	G	rs115003104	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:160732032C>G	ENST00000263636.4	-	12	1924	c.1897G>C	c.(1897-1899)Gaa>Caa	p.E633Q	LY75_ENST00000553424.1_Missense_Mutation_p.E633Q|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E633Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E633Q|LY75_ENST00000554112.1_Missense_Mutation_p.E633Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GATGCTTCTTCAGGCCCAAGG	0.463000													30	99					0	0	1	0	0
FAM134B	54463	broad.mit.edu	37	5	16479000	16479000	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:16479000C>T	ENST00000306320.9	-	6	853	c.767G>A	c.(766-768)gGa>gAa	p.G256E	FAM134B_ENST00000399793.2_Missense_Mutation_p.G115E	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	256					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TTCTCCAATTCCAAAATCCAG	0.308000													11	58					0	0	1	0	0
FGF16	8823	broad.mit.edu	37	X	76709656	76709656	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:76709656G>C	ENST00000439435.1	+	1	9	c.9G>C	c.(7-9)tgG>tgC	p.W3C				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						AGGAATCCTGGAGTTTATCAG	0.498000													3	25					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43826171	43826171	+	Missense_Mutation	SNP	C	C	G	rs137911452		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:43826171C>G	ENST00000389420.3	-	21	3031	c.3032G>C	c.(3031-3033)cGa>cCa	p.R1011P	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R165P|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1011P	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1011	TSP type-1 4.					proteinaceous extracellular matrix	zinc ion binding	p.R1011L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCGTCACTCGGGACAGTTC	0.438000													4	65					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198583	52198583	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:52198583C>T	ENST00000371471.2	-	2	1208	c.783G>A	c.(781-783)tcG>tcA	p.S261S	ZNF217_ENST00000302342.3_Silent_p.S261S			O75362	ZN217_HUMAN	zinc finger protein 217	261					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGTCCTCCCTCGAGGACGGCA	0.522000													21	129					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146108204	146108204	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:146108204C>G	ENST00000292579.7	-	6	495	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.E122Q	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TTTTGACTCTCTCCCTTGGTT	0.398000													8	131					0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43702386	43702386	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:43702386C>A	ENST00000278353.4	+	1	128	c.9C>A	c.(7-9)agC>agA	p.S3R	HSD17B12_ENST00000395700.4_Missense_Mutation_p.S3R|HSD17B12_ENST00000529261.1_Intron	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	3					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CCATGGAGAGCGCTCTCCCCG	0.627000													4	74					0.00024832	0.000259354	1	1	0
LCT	3938	broad.mit.edu	37	2	136566392	136566392	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:136566392C>G	ENST00000264162.2	-	8	3535	c.3525G>C	c.(3523-3525)agG>agC	p.R1175S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1175	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAGTTCACTCCTGTTCCCCA	0.557000													15	77					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804704	39804704	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:39804704C>G	ENST00000248668.4	-	1	1272	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	425	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGCCGACGCTCAGCCGCAGAA	0.682000													21	55					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48779626	48779626	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:48779626C>G	ENST00000316623.5	-	28	3801	c.3346G>C	c.(3346-3348)Gag>Cag	p.E1116Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1116	EGF-like 17; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTCTGACACTCATCAATATCT	0.542000													8	86					0	0	1	0	0
RNF181	51255	broad.mit.edu	37	2	85824037	85824037	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:85824037C>T	ENST00000441634.1	+	3	349	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	RNF181_ENST00000306368.4_Silent_p.L104L			Q9P0P0	RN181_HUMAN	ring finger protein 181	104							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						CAGCTGCATTCTGCCCTGGCT	0.522000													19	119					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110172909	110172909	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:110172909C>G	ENST00000256578.3	+	16	2560	c.2200C>G	c.(2200-2202)Ccg>Gcg	p.P734A	AMPD2_ENST00000528667.1_Missense_Mutation_p.P734A|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.P659A|AMPD2_ENST00000528454.1_Missense_Mutation_p.P616A|AMPD2_ENST00000393688.3_Missense_Mutation_p.P615A|AMPD2_ENST00000342115.4_Missense_Mutation_p.P653A	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	734					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CGCCATGTCTCCGCTCAGCAA	0.637000													10	182					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14961757	14961757	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:14961757C>G	ENST00000453695.2	-	13	1220	c.776G>C	c.(775-777)aGa>aCa	p.R259T	DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R259T|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R264T|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.R379T|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R32T|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R264T|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R259T|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R259T|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.R379T|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R264T|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R259T	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	379					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GTGAACTGTTCTAGCTCTCTT	0.468000								Non-homologous end-joining					5	82					0	0	1	0	0
METTL23	124512	broad.mit.edu	37	17	74729741	74729741	+	Silent	SNP	C	C	G	rs143884158	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:74729741C>G	ENST00000341249.6	+	5	878	c.546C>G	c.(544-546)gtC>gtG	p.V182V	RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000588822.1_Silent_p.V115V|METTL23_ENST00000586752.1_Silent_p.V115V|METTL23_ENST00000586200.1_Silent_p.V63V|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000590964.1_Silent_p.V115V|METTL23_ENST00000588302.1_3'UTR	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	182						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						AAATGCTGGTCATTTCCTTTG	0.413000													29	119					0	0	1	0	0
BFSP1	631	broad.mit.edu	37	20	17475165	17475165	+	Missense_Mutation	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:17475165T>G	ENST00000377873.3	-	8	1591	c.1552A>C	c.(1552-1554)Aag>Cag	p.K518Q	BFSP1_ENST00000536626.1_Missense_Mutation_p.K379Q|BFSP1_ENST00000544874.1_Missense_Mutation_p.K379Q|BFSP1_ENST00000377868.2_Missense_Mutation_p.K393Q	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	518	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AAAGGGGGCTTGGGTGACTCA	0.537000													5	75					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43894080	43894080	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:43894080C>G	ENST00000562955.1	+	27	3918	c.3918C>G	c.(3916-3918)ctC>ctG	p.L1306L	SZT2_ENST00000372442.1_Silent_p.L464L	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1363						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTGGTCCTCTCAGCCCTGGGC	0.527000													7	166					0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208573	67208573	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:67208573G>A	ENST00000568146.1	+	3	388	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	NOL3_ENST00000564053.1_Silent_p.P177P|NOL3_ENST00000432069.2_Silent_p.P115P|NOL3_ENST00000268605.7_Silent_p.P115P			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	112					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		ACTGGACGCCGGAGGCACCCG	0.687000													4	18					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128642733	128642733	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:128642733G>C	ENST00000527786.2	+	4	931	c.442G>C	c.(442-444)Gag>Cag	p.E148Q	FLI1_ENST00000281428.8_Missense_Mutation_p.E82Q|FLI1_ENST00000534087.2_Missense_Mutation_p.E115Q|FLI1_ENST00000344954.6_Missense_Mutation_p.E115Q|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor		PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGCCATAAAGGAGTACAGCTT	0.522000			T	EWSR1	Ewing sarcoma								11	206					0	0	1	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573737	136573737	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:136573737C>T	ENST00000446465.2	+	2	1063	c.435C>T	c.(433-435)gtC>gtT	p.V145V	RP11-85F14.5_ENST00000470236.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.V145V	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	145	DUF6 1.					Golgi apparatus|integral to membrane											TTTTTCAGGTCTTATCTGTGT	0.408000													8	146					0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27016116	27016116	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27016116G>T	ENST00000335756.4	+	4	592	c.392G>T	c.(391-393)aGg>aTg	p.R131M	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R105M	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	131	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCCCGGAGGATCCGGGGC	0.552000													22	216					1.42536e-11	1.57641e-11	1	1	0
USP34	9736	broad.mit.edu	37	2	61571007	61571007	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:61571007G>C	ENST00000398571.2	-	16	2519	c.2443C>G	c.(2443-2445)Cac>Gac	p.H815D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	815					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTTGGAGGTGAGATGTCAGT	0.363000													9	77					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67293434	67293434	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:67293434C>G	ENST00000392676.3	-	10	1398	c.1334G>C	c.(1333-1335)aGa>aCa	p.R445T	ABCA5_ENST00000588877.1_Missense_Mutation_p.R445T|ABCA5_ENST00000392677.2_Missense_Mutation_p.R445T			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	445					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTCATAATTTCTTTTGCTCTT	0.318000													4	88					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54799682	54799682	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:54799682C>T	ENST00000293379.4	-	10	1196	c.935G>A	c.(934-936)cGa>cAa	p.R312Q	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	312					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GTAGAGGGATCGAATGTCTGA	0.512000													5	113					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34912559	34912559	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:34912559G>C	ENST00000246535.3	+	6	980	c.933G>C	c.(931-933)aaG>aaC	p.K311N	PDCD2L_ENST00000587065.2_Missense_Mutation_p.K9N	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	311						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCATGCTCAAGAGTGCTAATT	0.398000													40	177					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14217608	14217608	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:14217608C>A	ENST00000308677.4	-	3	397	c.201G>T	c.(199-201)ggG>ggT	p.G67G	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Silent_p.G59G	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	67	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CATAGTGGTTCCCGGTCTCCT	0.592000													18	94					1.67942e-08	1.8333e-08	1	1	0
PLA2G4F	255189	broad.mit.edu	37	15	42439847	42439847	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:42439847C>G	ENST00000397272.3	-	12	1270	c.1179G>C	c.(1177-1179)ctG>ctC	p.L393L	PLA2G4F_ENST00000382396.4_Silent_p.L391L	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	391	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGACCCCACTCAGGTAGGTCA	0.592000													14	115					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681748	30681748	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:30681748C>T	ENST00000376406.3	-	3	996	c.349G>A	c.(349-351)Gac>Aac	p.D117N	MDC1_ENST00000376405.2_Missense_Mutation_p.D117N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	117	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AATTCCTGGTCCCTCAGACGG	0.547000								Other conserved DNA damage response genes					13	49					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100348274	100348274	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:100348274G>A	ENST00000542585.1	+	0	1424				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTTGAGGCTGACGAGTTCTC	0.557000													4	16					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45547982	45547982	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:45547982C>T	ENST00000291576.7	+	18	2437	c.2310C>T	c.(2308-2310)aaC>aaT	p.N770N	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	770						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)		TCCGGCTCAACGAGAGCAAAC	0.687000													6	52					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35478696	35478696	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:35478696C>G	ENST00000229771.6	-	5	520	c.441G>C	c.(439-441)ctG>ctC	p.L147L	TULP1_ENST00000322263.4_Silent_p.L94L	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	147					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCTTCTCTCTCAGGGGCTTCT	0.592000													10	82					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3760190	3760190	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:3760190G>C	ENST00000316757.3	-	2	273	c.73C>G	c.(73-75)Ctt>Gtt	p.L25V		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	25					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCACAAGAATGTCCCTG	0.622000													9	46					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760775	130760775	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:130760775G>T	ENST00000276708.4	-	14	2380	c.1499C>A	c.(1498-1500)tCg>tAg	p.S500*		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	500						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTGCAGCAACGAGAGAGTCCC	0.587000													8	203					0.00448238	0.00459149	1	1	0
TAF3	83860	broad.mit.edu	37	10	7866376	7866376	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:7866376G>C	ENST00000344293.5	+	2	468	c.262G>C	c.(262-264)Gag>Cag	p.E88Q		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	88					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TCACAACATTGAGCCTGTCAC	0.428000													16	135					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48391860	48391860	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:48391860C>G	ENST00000435803.1	+	31	10488	c.10464C>G	c.(10462-10464)atC>atG	p.I3488M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3488					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						CATACACAATCCGGACCAATG	0.428000													6	125					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4881898	4881898	+	Missense_Mutation	SNP	G	G	A	rs151058277		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:4881898G>A	ENST00000361571.5	-	9	2074	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S	CAMTA2_ENST00000381311.5_Missense_Mutation_p.P558S|CAMTA2_ENST00000414043.3_Missense_Mutation_p.P579S|CAMTA2_ENST00000358183.4_Missense_Mutation_p.P556S|CAMTA2_ENST00000348066.3_Missense_Mutation_p.P556S|CAMTA2_ENST00000572543.1_Missense_Mutation_p.P561S	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	556	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TCGGTCCAAGGACCTGTGATG	0.552000													23	45					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123697601	123697601	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:123697601C>T	ENST00000422452.2	-	13	2348	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q	TENM1_ENST00000371130.3_Missense_Mutation_p.R762Q	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AATCTTACCTCGGACAGCATC	0.318000													3	8					0	0	1	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113673024	113673024	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:113673024G>A	ENST00000330212.3	+	3	938	c.639G>A	c.(637-639)ctG>ctA	p.L213L	ZDHHC23_ENST00000498275.1_Silent_p.L207L	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	213						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						TGGAGTGCCTGAGCAGAAAAG	0.542000													11	160					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797576	148797576	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:148797576G>C	ENST00000355220.5	+	5	532	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E115Q	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	144						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCTCCAAGCTGAGGAGCAGGA	0.577000													6	40					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52830792	52830792	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:52830792G>A	ENST00000449956.2	+	4	325	c.319G>A	c.(319-321)Gag>Aag	p.E107K	ITIH3_ENST00000416872.2_Missense_Mutation_p.E107K	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	107	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GAATGTCAAGGAGAAGGAAGT	0.572000													6	14					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350499	134350499	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:134350499C>G	ENST00000357304.4	+	15	3038	c.2983C>G	c.(2983-2985)Ctg>Gtg	p.L995V	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	995							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CGATGCCTCTCTGGCCAACTC	0.572000													4	21					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38066075	38066075	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:38066075C>A	ENST00000394175.2	-	3	733	c.510G>T	c.(508-510)ctG>ctT	p.L170L	GSDMB_ENST00000360317.3_Silent_p.L170L|GSDMB_ENST00000418519.1_Silent_p.L170L|GSDMB_ENST00000309481.7_Silent_p.L170L|GSDMB_ENST00000394179.1_Silent_p.L170L|GSDMB_ENST00000520542.1_Silent_p.L170L	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	170						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GGTCGCTTTTCAGGGTTTCCT	0.478000													15	174					1.52009e-12	1.69194e-12	1	1	0
KCNS2	3788	broad.mit.edu	37	8	99441529	99441529	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:99441529C>T	ENST00000287042.4	+	2	1672	c.1322C>T	c.(1321-1323)tCg>tTg	p.S441L	KCNS2_ENST00000521839.1_Missense_Mutation_p.S441L	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	441						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GAGGTCCCTTCGGTCAATTTA	0.448000													5	154					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012282	41012282	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41012282C>T	ENST00000352632.3	+	13	1891	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	SPTBN4_ENST00000595535.1_Missense_Mutation_p.S602F|SPTBN4_ENST00000598249.1_Missense_Mutation_p.S602F|SPTBN4_ENST00000338932.3_Missense_Mutation_p.S602F|SPTBN4_ENST00000344104.3_Missense_Mutation_p.S602F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	602					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGCGCTTCTCCCAGCTGCAG	0.612000													6	96					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802621	27802621	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27802621C>G	ENST00000408964.2	+	1	3233	c.3182C>G	c.(3181-3183)tCt>tGt	p.S1061C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1061										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAAGGATTTCTGAGTCCCAA	0.433000													20	155					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461611	70461611	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:70461611C>T	ENST00000327305.6	-	5	1155	c.498G>A	c.(496-498)ttG>ttA	p.L166L	NETO1_ENST00000299430.2_Silent_p.L165L|NETO1_ENST00000583169.1_Silent_p.L166L	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	166					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.L166F(1)		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)		GTAATGGTTTCAAAGCTCCAA	0.303000													6	63					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255517	140255517	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140255517C>G	ENST00000398631.2	+	1	460	c.460C>G	c.(460-462)Cta>Gta	p.L154V	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATTTTCCTCTAGAGGGCGC	0.433000													5	113					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46686403	46686403	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:46686403C>G	ENST00000434074.1	+	11	1483	c.794C>G	c.(793-795)tCa>tGa	p.S265*	ATG13_ENST00000312040.4_Nonsense_Mutation_p.S265*|ATG13_ENST00000524625.1_Intron|ATG13_ENST00000530500.1_Intron|ATG13_ENST00000529655.1_Intron|ATG13_ENST00000451945.1_Intron|ATG13_ENST00000526508.1_Nonsense_Mutation_p.S265*|ATG13_ENST00000359513.4_Nonsense_Mutation_p.S265*|ATG13_ENST00000528494.1_Nonsense_Mutation_p.S298*	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	265					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GCTTAGCTCTCAAGCTCTCGC	0.478000													35	112					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878339	5878339	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:5878339G>C	ENST00000537935.1	-	1	625	c.594C>G	c.(592-594)atC>atG	p.I198M	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTTGACTTTGATGCTGGCAC	0.468000													19	100					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445619	150445619	+	Missense_Mutation	SNP	T	T	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150445619T>A	ENST00000401000.4	+	10	4182	c.4117T>A	c.(4117-4119)Ttg>Atg	p.L1373M	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.L1399M			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1399	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGGCCCCCCCTTGGGTCCCTC	0.617000													11	99					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65349115	65349115	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:65349115G>C	ENST00000342505.4	-	3	298	c.50C>G	c.(49-51)gCt>gGt	p.A17G		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	17					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CCTCATTTTAGCACAGAAAGC	0.483000			Mis		ALL								4	169					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45599773	45599773	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:45599773G>T	ENST00000336156.5	-	6	675	c.610C>A	c.(610-612)Cag>Aag	p.Q204K	KIAA0930_ENST00000251993.7_Missense_Mutation_p.Q209K|KIAA0930_ENST00000391627.2_Missense_Mutation_p.Q170K|KIAA0930_ENST00000443310.3_Missense_Mutation_p.Q186K	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930								protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						ATGGAGCCCTGAAAGATGACC	0.622000													11	28					3.07112e-06	3.29463e-06	1	1	0
HPCA	3208	broad.mit.edu	37	1	33354713	33354713	+	Missense_Mutation	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:33354713T>G	ENST00000373467.3	+	2	316	c.214T>G	c.(214-216)Ttt>Gtt	p.F72V	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	72	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CTTCCGCACCTTTGACACCAA	0.557000													12	333					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200613388	200613388	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:200613388C>A	ENST00000331314.6	-	8	2067	c.1854G>T	c.(1852-1854)caG>caT	p.Q618H	DDX59_ENST00000447706.2_Intron|DDX59_ENST00000367348.3_Intron	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	618						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						AAAATCATTTCTGAGAATTAC	0.274000													9	16					3.09899e-07	3.35488e-07	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71071785	71071785	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:71071785G>C	ENST00000452400.2	-	10	1260	c.1079C>G	c.(1078-1080)aCt>aGt	p.T360S		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	360					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TTCATTAGTAGTCTGAGAACG	0.383000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								6	183					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936912	15936912	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:15936912G>A	ENST00000504595.1	+	4	1574	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	FBXL7_ENST00000510662.1_Missense_Mutation_p.D318N|FBXL7_ENST00000329673.7_Missense_Mutation_p.D353N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	365					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGGGTCACCGACGTGGGCAT	0.677000													6	37					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36122281	36122281	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:36122281G>A	ENST00000262633.4	+	4	521	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	RBM42_ENST00000588161.1_Missense_Mutation_p.R139Q|RBM42_ENST00000360475.4_Missense_Mutation_p.R139Q|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.R139Q|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589871.1_Missense_Mutation_p.R139Q	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	139						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAGAGGCTCGAGAAGCCATG	0.582000													30	99					0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86585192	86585192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:86585192C>A	ENST00000376263.3	-	16	1469	c.1246G>T	c.(1246-1248)Gag>Tag	p.E416*	HNRNPK_ENST00000351839.3_Nonsense_Mutation_p.E416*|HNRNPK_ENST00000376264.2_Nonsense_Mutation_p.E416*|HNRNPK_ENST00000376281.4_Nonsense_Mutation_p.E416*|HNRNPK_ENST00000360384.5_Nonsense_Mutation_p.E416*	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	416	2 X 22 AA approximate repeats.|KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GCTCCCGACTCATGACGGATT	0.388000													5	39					0.000602214	0.000624971	1	1	0
ASTN2	23245	broad.mit.edu	37	9	119583056	119583056	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:119583056C>G	ENST00000313400.4	-	12	2147	c.2047G>C	c.(2047-2049)Gag>Cag	p.E683Q	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E679Q|ASTN2_ENST00000361209.2_Missense_Mutation_p.E632Q			O75129	ASTN2_HUMAN	astrotactin 2	683	EGF-like 2.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTCAGCTCCTCAGGGCACTGC	0.567000													5	48					0	0	1	0	0
C2ORF15	150590	broad.mit.edu	37	2	99767184	99767184	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:99767184G>T	ENST00000302513.2	+	4	901	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	C2ORF15_ENST00000409684.1_Nonsense_Mutation_p.E89*|TSGA10_ENST00000393483.3_Intron	NM_144706.2	NP_653307.1				89																	CACAAATCAAGAAAACTTTAC	0.398000													10	77					0.000442599	0.000461343	1	1	0
PTGFRN	5738	broad.mit.edu	37	1	117484361	117484361	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:117484361G>C	ENST00000393203.2	+	2	221	c.74G>C	c.(73-75)aGa>aCa	p.R25T		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	25						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CGTGTGGTGAGAGTCCCCACA	0.532000													9	93					0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607046	131607046	+	Missense_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:131607046T>C	ENST00000253754.3	+	5	621	c.557T>C	c.(556-558)cTg>cCg	p.L186P	PDLIM4_ENST00000379018.3_Missense_Mutation_p.L186P|PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	186							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGAGTCGACCTGGGCTCCGAG	0.652000													4	36					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1978471	1978471	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:1978471C>T	ENST00000255641.8	+	4	754	c.259C>T	c.(259-261)Cac>Tac	p.H87Y		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	87	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCAGCTGCACCTGGAGTA	0.736000													5	14					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43892726	43892726	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:43892726G>A	ENST00000562955.1	+	23	3138		c.e23-1		SZT2_ENST00000372442.1_Splice_Site	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TTCTCTTACAGAGTGTAGGTC	0.493000													15	331					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77780798	77780798	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:77780798C>T	ENST00000407578.2	-	24	3845	c.3579G>A	c.(3577-3579)ttG>ttA	p.L1193L	MYCBP2_ENST00000357337.6_Silent_p.L1155L|MYCBP2_ENST00000544440.2_Silent_p.L1155L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTAAAATGTGCAAAGCTGCAT	0.408000													10	38					0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8276551	8276551	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:8276551C>T	ENST00000229332.5	+	1	324	c.77C>T	c.(76-78)tCt>tTt	p.S26F	CLEC4A_ENST00000360500.3_Missense_Mutation_p.S26F|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S26F|CLEC4A_ENST00000345999.3_Missense_Mutation_p.S26F	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	26					cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ACAGCCTCTTCTGCAGGTAAA	0.433000													10	42					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686837	27686837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:27686837C>A	ENST00000493901.1	-	17	2316	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.E685*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.E693*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	693	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGAGCGATCTCTTCATGCAGG	0.612000													4	53					0.184627	0.185338	1	1	0
SARNP	84324	broad.mit.edu	37	12	56194392	56194392	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:56194392C>T	ENST00000444631.2	-	3	178	c.25G>A	c.(25-27)Gag>Aag	p.E9K	RP11-762I7.5_ENST00000546837.1_Silent_p.*381*|SARNP_ENST00000336133.3_Missense_Mutation_p.E69K|SARNP_ENST00000552080.1_Missense_Mutation_p.E69K					SAP domain containing ribonucleoprotein											breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						ACAGGGAGCTCAATGGGCTTT	0.348000													7	50					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747564	121747564	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:121747564G>A	ENST00000452319.1	+	14	4134	c.4074G>A	c.(4072-4074)ccG>ccA	p.P1358P	GLI2_ENST00000361492.4_Silent_p.P1358P|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1358					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAACAGGCCCGATGGGGGTGG	0.697000													6	17					0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593587	137593587	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:137593587C>T	ENST00000274721.3	-	4	772	c.526G>A	c.(526-528)Gac>Aac	p.D176N	GFRA3_ENST00000378362.3_Missense_Mutation_p.D145N	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	176					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGCAGCCGGTCACACTTGTCA	0.647000													22	48					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436019	27436019	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:27436019G>C	ENST00000295736.5	-	20	3150	c.3080C>G	c.(3079-3081)tCa>tGa	p.S1027*	SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.S1036*|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.S912*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.S1023*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.S908*|SLC4A7_ENST00000388777.4_Nonsense_Mutation_p.S577*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.S1019*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.S1023*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.S903*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.S908*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1027						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CTTTAGGACTGAAGTCATGAA	0.338000													10	61					0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39413942	39413942	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:39413942C>A	ENST00000361441.4	+	3	626	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C						DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					CAACGTGAATCTCACCATCTT	0.577000													50	107					5.73435e-26	6.47939e-26	1	1	0
USP36	57602	broad.mit.edu	37	17	76799954	76799954	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:76799954G>A	ENST00000542802.3	-	16	2766	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W	USP36_ENST00000449938.2_Intron|USP36_ENST00000312010.6_Missense_Mutation_p.R775W			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36				R -> Q (in dbSNP:rs9889908).		ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGCAGCTCCGTGGTTCTGAC	0.652000													8	136					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24971045	24971045	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:24971045C>G	ENST00000289968.6	-	9	740	c.671G>C	c.(670-672)aGa>aCa	p.R224T	ARHGAP17_ENST00000441763.2_Intron|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.R224T|ARHGAP17_ENST00000575975.1_Intron	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	224	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TAATGCTTTTCTATGGTAATC	0.473000													4	38					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207572054	207572054	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:207572054G>C	ENST00000452335.2	-	3	384	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	90						plasma membrane	zinc ion binding	p.L90L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		AGAAGGCTCAGAGTGAGTTCC	0.517000													3	15					0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59063836	59063836	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:59063836C>G	ENST00000559228.1	+	1	324	c.242C>G	c.(241-243)tCc>tGc	p.S81C	FAM63B_ENST00000450403.2_Missense_Mutation_p.S81C			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	81										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCCTGCAGCTCCTCCGCGGGT	0.697000													13	28					0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	37969155	37969155	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:37969155G>T	ENST00000327441.7	+	13	1540	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	MIPOL1_ENST00000536774.1_Missense_Mutation_p.Q177H|MIPOL1_ENST00000556451.1_Missense_Mutation_p.Q327H|MIPOL1_ENST00000539062.2_Missense_Mutation_p.Q327H|MIPOL1_ENST00000396294.2_Missense_Mutation_p.Q358H|MIPOL1_ENST00000545536.1_Missense_Mutation_p.Q327H|MIPOL1_ENST00000537471.1_Missense_Mutation_p.Q358H	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	358										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		TGAAGGATCAGTTTAACTATA	0.299000													5	71					0.014758	0.0150053	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	41976579	41976579	+	Missense_Mutation	SNP	G	G	A	rs146175722		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:41976579G>A	ENST00000372584.1	-	8	7775	c.6761C>T	c.(6760-6762)tCg>tTg	p.S2254L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.S2255L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.S2255L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S2254L|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2255					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGCCACAGGCGACACGGAGGC	0.687000													12	191					0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4033124	4033124	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:4033124G>C	ENST00000262971.2	+	8	1049	c.934G>C	c.(934-936)Gac>Cac	p.D312H		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	312					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTGATCCTGACAGCGAGAT	0.667000													10	96					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101833871	101833871	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:101833871G>A	ENST00000263468.8	+	6	2375	c.2105G>A	c.(2104-2106)gGa>gAa	p.G702E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.G503E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	702							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ACGACTTTAGGAGGATCTGGA	0.388000													8	114					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917015	106917015	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:106917015G>C	ENST00000369701.3	+	10	1829	c.1602G>C	c.(1600-1602)ctG>ctC	p.L534L		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	534						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATGTGGACCTGAGAGGAAGCC	0.557000													3	38					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9522192	9522192	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:9522192C>G	ENST00000019317.4	+	4	961	c.738C>G	c.(736-738)gcC>gcG	p.A246A	RALBP1_ENST00000383432.3_Silent_p.A246A			Q15311	RBP1_HUMAN	ralA binding protein 1	246	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TAAAAGCAGCCTATGACCGGG	0.388000													4	150					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264819	179264819	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:179264819C>G	ENST00000403396.2	-	8	747	c.730G>C	c.(730-732)Gac>Cac	p.D244H	C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.D147H|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000518235.1_Missense_Mutation_p.D202H|C5orf45_ENST00000523084.1_Missense_Mutation_p.D68H|SQSTM1_ENST00000376929.3_3'UTR|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000520698.1_Missense_Mutation_p.D147H|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000292586.6_Missense_Mutation_p.D202H			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	202										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GCACTGCAGTCTGCAGAGTTC	0.582000													4	50					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670981	74670981	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:74670981C>G	ENST00000609362.1	+	4	1287	c.1250C>G	c.(1249-1251)tCa>tGa	p.S417*	FPGT_ENST00000370898.3_Nonsense_Mutation_p.S430*|FPGT_ENST00000534056.1_Nonsense_Mutation_p.S163*|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000370894.5_Missense_Mutation_p.Q145E	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GCACCTGGCTCAGTTGTGGAG	0.428000													7	55					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27019387	27019387	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:27019387C>T	ENST00000382009.3	+	12	2096	c.1829C>T	c.(1828-1830)tCa>tTa	p.S610L	STIM2_ENST00000465503.1_Missense_Mutation_p.S523L|STIM2_ENST00000412829.2_Missense_Mutation_p.S602L|STIM2_ENST00000467011.1_Missense_Mutation_p.S515L|STIM2_ENST00000467087.1_Missense_Mutation_p.S515L|STIM2_ENST00000237364.5_Missense_Mutation_p.S602L	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	515					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CTGTGCCGTTCACGCCGCAGC	0.597000													5	233					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081175	152081175	+	Missense_Mutation	SNP	C	C	A	rs71585886		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152081175C>A	ENST00000368804.1	-	2	4517	c.4518G>T	c.(4516-4518)caG>caT	p.Q1506H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1506	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCGCAGTTCCTGTTCGCGGA	0.562000													24	186					1.64293e-13	1.83337e-13	1	1	0
ELMOD3	84173	broad.mit.edu	37	2	85595871	85595871	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:85595871G>A	ENST00000315658.7	+	5	521	c.262G>A	c.(262-264)Gag>Aag	p.E88K	ELMOD3_ENST00000409013.3_Missense_Mutation_p.E88K|ELMOD3_ENST00000409890.2_Missense_Mutation_p.E88K|ELMOD3_ENST00000409344.3_Missense_Mutation_p.E88K|ELMOD3_ENST00000428955.2_Missense_Mutation_p.E88K|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Missense_Mutation_p.E88K	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	88					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						CATCCAGCCAGAGACAGGTAA	0.512000													8	53					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105947216	105947216	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:105947216C>T	ENST00000357060.3	-	14	1837	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	WDR96_ENST00000428666.1_Silent_p.L575L|WDR96_ENST00000278064.2_Silent_p.L505L	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	574										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTCATCTTTCAGCCTTCCTC	0.348000													4	31					0	0	1	0	0
WDR20	91833	broad.mit.edu	37	14	102675792	102675792	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:102675792C>A	ENST00000335263.5	+	3	1365	c.1285C>A	c.(1285-1287)Ctg>Atg	p.L429M	WDR20_ENST00000556807.1_Missense_Mutation_p.L368M|WDR20_ENST00000556511.2_Missense_Mutation_p.L368M|WDR20_ENST00000424963.2_Missense_Mutation_p.L305M|WDR20_ENST00000454394.2_Missense_Mutation_p.L460M|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000545563.1_Missense_Mutation_p.L256M|WDR20_ENST00000342702.3_Missense_Mutation_p.L429M|WDR20_ENST00000499851.2_Missense_Mutation_p.L172M|WDR20_ENST00000299135.6_3'UTR	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	429										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GCCGCCTCCTCTGCCACGGTC	0.537000											OREG0022939	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	96					0.00198382	0.00203771	1	1	0
APC	324	broad.mit.edu	37	5	112177841	112177841	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:112177841G>C	ENST00000457016.1	+	16	6930	c.6550G>C	c.(6550-6552)Gaa>Caa	p.E2184Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.E2184Q|APC_ENST00000508376.2_Missense_Mutation_p.E2184Q			P25054	APC_HUMAN	adenomatous polyposis coli	2184	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATAGAATCTGAAAGTAAAGG	0.338000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			13	42					0	0	1	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033847	100033847	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:100033847C>T	ENST00000292330.2	-	1	341	c.151G>A	c.(151-153)Gac>Aac	p.D51N	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	51	Pro-rich.																TGAGGGCTGTCGGGCCGCGGG	0.816000													3	17					0	0	1	0	0
UBAP2L	9898	broad.mit.edu	37	1	154215710	154215710	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:154215710C>G	ENST00000428931.1	+	10	941	c.774C>G	c.(772-774)atC>atG	p.I258M	UBAP2L_ENST00000361546.2_Missense_Mutation_p.I258M|UBAP2L_ENST00000271877.7_Missense_Mutation_p.I269M|UBAP2L_ENST00000343815.6_Missense_Mutation_p.I258M	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	258					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGACCAAGATCTTCACTGCCT	0.458000													42	453					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570262	25570262	+	Missense_Mutation	SNP	T	T	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:25570262T>A	ENST00000269141.3	-	10	1820	c.1397A>T	c.(1396-1398)aAt>aTt	p.N466I	CDH2_ENST00000399380.3_Missense_Mutation_p.N435I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	466	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCACTTGATTTTCTGCAGC	0.413000													8	41					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166894430	166894430	+	Missense_Mutation	SNP	C	C	T	rs121918774		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:166894430C>T	ENST00000423058.2	-	15	2819	c.2802G>A	c.(2800-2802)atG>atA	p.M934I	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.M934I|SCN1A_ENST00000375405.3_Missense_Mutation_p.M923I|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M906I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	934			M -> I (in SMEI; dbSNP:rs121918774).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.M923I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGAAGTCATTCATGTGCCAGC	0.502000													9	107					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79268677	79268677	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:79268677G>C	ENST00000374759.3	-	1	428	c.45C>G	c.(43-45)atC>atG	p.I15M	SLC38A10_ENST00000288439.5_Missense_Mutation_p.I15M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	15					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTGTTCACGATGTTCGTGA	0.687000													18	136					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416959	62416959	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62416959G>A	ENST00000330574.2	-	2	645	c.593C>T	c.(592-594)tCg>tTg	p.S198L		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	198					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AATGAGAGCCGAGAGGCACTG	0.532000													46	38					0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167382306	167382306	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:167382306C>G	ENST00000367862.5	+	15	2147	c.1912C>G	c.(1912-1914)Ctc>Gtc	p.L638V	POU2F1_ENST00000420254.3_Missense_Mutation_p.L626V|POU2F1_ENST00000429375.2_Missense_Mutation_p.L586V|POU2F1_ENST00000541643.3_Missense_Mutation_p.L626V|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Missense_Mutation_p.L649V	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	626					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GAGCGGTGCTCTCAGCCCAGC	0.483000													5	182					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6013726	6013726	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:6013726G>C	ENST00000259569.5	-	1	1892	c.1882C>G	c.(1882-1884)Caa>Gaa	p.Q628E	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	628					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGGTACTGTTGAAAATCTTTT	0.393000													17	152					0	0	1	0	0
TCHP	84260	broad.mit.edu	37	12	110344431	110344431	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:110344431G>C	ENST00000312777.5	+	5	725	c.511G>C	c.(511-513)Gaa>Caa	p.E171Q	TCHP_ENST00000405876.4_Missense_Mutation_p.E171Q	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	171	Glu-rich.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AATGCAGAAAGAAGAAAAAAA	0.478000													4	31					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35107492	35107492	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:35107492C>G	ENST00000381318.3	+	5	617	c.329C>G	c.(328-330)tCt>tGt	p.S110C	ITSN1_ENST00000399352.1_Missense_Mutation_p.S110C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S110C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S110C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S110C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S110C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399338.4_Missense_Mutation_p.S110C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S110C|ITSN1_ENST00000399353.1_Missense_Mutation_p.S110C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S110C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S110C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S110C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	110					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GTTGCTATTTCTAGCGCACCA	0.363000													5	76					0	0	1	0	0
TACO1	51204	broad.mit.edu	37	17	61684690	61684690	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:61684690G>C	ENST00000258975.6	+	4	771	c.559G>C	c.(559-561)Ggg>Cgg	p.G187R		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	187					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						TGACAAAAAGGGGGTGATTGT	0.532000													42	72					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176333038	176333038	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:176333038G>C	ENST00000377219.2	-	14	2092	c.1926C>G	c.(1924-1926)atC>atG	p.I642M	UIMC1_ENST00000377227.4_Missense_Mutation_p.I641M|UIMC1_ENST00000506128.1_Missense_Mutation_p.I475M|UIMC1_ENST00000511320.1_Missense_Mutation_p.I641M	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	641					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGAAGACTTGATGTCTGCAT	0.413000													4	41					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436165	11436165	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:11436165G>T	ENST00000222120.3	-	5	829	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Missense_Mutation_p.S190Y	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	190					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGGTTCCAGGGACTCGTTCAT	0.607000													12	50					4.36969e-10	4.80629e-10	1	1	0
MYH11	4629	broad.mit.edu	37	16	15931778	15931778	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:15931778G>C	ENST00000452625.2	-	2	419	c.332C>G	c.(331-333)tCa>tGa	p.S111*	MYH11_ENST00000576790.2_Nonsense_Mutation_p.S111*|MYH11_ENST00000300036.5_Nonsense_Mutation_p.S111*|MYH11_ENST00000396324.3_Nonsense_Mutation_p.S111*	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	111	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TATTAGCCCTGAGAAGTACCG	0.537000			T	CBFB	AML								6	71					0	0	1	0	0
PACSIN3	29763	broad.mit.edu	37	11	47204266	47204266	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:47204266C>G	ENST00000539589.1	-	3	355	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	PACSIN3_ENST00000298838.6_Missense_Mutation_p.E5Q	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	5					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CCAGCGTCCTCTTCTGGAGCC	0.617000													4	114					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181660	120181660	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:120181660C>G	ENST00000328078.1	+	1	199	c.122C>G	c.(121-123)tCg>tGg	p.S41W		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	41					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCCGCCGCCTCGCAGCCGGGG	0.756000													4	36					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197115342	197115342	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:197115342C>G	ENST00000367409.4	-	1	482	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E76Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	76					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATCTTCACTTCTGCCACCTCC	0.612000													32	156					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564386	37564386	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37564386G>C	ENST00000300651.6	-	17	4311	c.4088C>G	c.(4087-4089)tCa>tGa	p.S1363*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1363	Interaction with TP53.|Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGAAACCTTTGATTTGTCTTT	0.448000										HNSCC(31;0.082)			24	198					0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115266549	115266549	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:115266549G>A	ENST00000438362.2	-	16	2344	c.1966C>T	c.(1966-1968)Cca>Tca	p.P656S	CSDE1_ENST00000339438.6_Missense_Mutation_p.P579S|CSDE1_ENST00000530886.1_Missense_Mutation_p.P480S|CSDE1_ENST00000369530.1_Missense_Mutation_p.P625S|CSDE1_ENST00000534699.1_Missense_Mutation_p.P610S|CSDE1_ENST00000358528.4_Missense_Mutation_p.P610S|CSDE1_ENST00000261443.5_Missense_Mutation_p.P579S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	610	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTGTGTTGGATCAACACTC	0.443000													48	71					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11800237	11800237	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:11800237G>A	ENST00000306928.5	-	3	955	c.921C>T	c.(919-921)gtC>gtT	p.V307V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	307					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCCAGCAGATGACATACATGA	0.552000													17	76					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151873749	151873749	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:151873749G>A	ENST00000355193.2	-	38	9007	c.8789C>T	c.(8788-8790)tCa>tTa	p.S2930L	KMT2C_ENST00000262189.6_Missense_Mutation_p.S2930L					lysine (K)-specific methyltransferase 2C																		CCTAATGTCTGAATTATCAGA	0.478000													10	43					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52637603	52637603	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:52637603C>G	ENST00000356770.4	-	16	2619	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q	PBRM1_ENST00000410007.1_Missense_Mutation_p.E905Q|PBRM1_ENST00000394830.3_Missense_Mutation_p.E905Q|PBRM1_ENST00000296302.7_Missense_Mutation_p.E905Q|PBRM1_ENST00000409114.3_Missense_Mutation_p.E920Q|PBRM1_ENST00000337303.4_Missense_Mutation_p.E905Q|PBRM1_ENST00000409057.1_Missense_Mutation_p.E905Q|PBRM1_ENST00000409767.1_Missense_Mutation_p.E920Q			Q86U86	PB1_HUMAN	polybromo 1	905					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCTTTCTCTCTTTCTCCACA	0.313000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								5	16					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75135898	75135898	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:75135898C>T	ENST00000372921.5	-	13	1412	c.1356G>A	c.(1354-1356)acG>acA	p.T452T	ANXA7_ENST00000535178.1_Silent_p.T322T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AATCTCCACTCGTGTCACCTG	0.363000													4	11					0	0	1	0	0
IFT88	8100	broad.mit.edu	37	13	21237729	21237729	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:21237729G>C	ENST00000382778.4	+	25	3430	c.2312G>C	c.(2311-2313)aGa>aCa	p.R771T	IFT88_ENST00000351808.5_Missense_Mutation_p.E721Q|IFT88_ENST00000319980.6_Missense_Mutation_p.E730Q|IFT88_ENST00000537103.1_Missense_Mutation_p.E702Q			Q13099	IFT88_HUMAN	intraflagellar transport 88 homolog (Chlamydomonas)	0					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		AAAAATGAAAGAAATAAGGGA	0.388000													14	36					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8732964	8732964	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:8732964C>G	ENST00000381920.3	+	6	975	c.717C>G	c.(715-717)ctC>ctG	p.L239L	METTL22_ENST00000568967.1_3'UTR|METTL22_ENST00000561758.1_Silent_p.L183L	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	239							methyltransferase activity			large_intestine(5)|lung(4)	9						GTGCAGATCTCTTGTCCATGT	0.537000													9	78					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320412	152320412	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:152320412G>C	ENST00000243326.5	+	29	4861	c.4378G>C	c.(4378-4380)Gat>Cat	p.D1460H	RIF1_ENST00000453091.2_Missense_Mutation_p.D1460H|RIF1_ENST00000430328.2_Missense_Mutation_p.D1460H|RIF1_ENST00000444746.2_Missense_Mutation_p.D1460H|RIF1_ENST00000428287.2_Missense_Mutation_p.D1460H			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCATATAAAAGATGATGTGTT	0.353000													13	28					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280482	105280482	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:105280482G>C	ENST00000327674.4	-	1	903	c.568C>G	c.(568-570)Caa>Gaa	p.Q190E	SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q190E			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	190					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGAGGTCTTGAATTAGACCC	0.408000													11	87					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469531	21469531	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:21469531C>G	ENST00000222584.3	+	3	966	c.748C>G	c.(748-750)Cag>Gag	p.Q250E		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	250					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.Q250*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCCTGGTACTCAGGCTCAAGT	0.478000													17	50					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48753812	48753812	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:48753812G>C	ENST00000285238.8	+	23	3321	c.3241G>C	c.(3241-3243)Gag>Cag	p.E1081Q		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1081	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGTCGTTGATGAGGTTCTGGC	0.532000													27	237					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26905731	26905731	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:26905731C>G	ENST00000321765.5	-	20	3489	c.3157G>C	c.(3157-3159)Gag>Cag	p.E1053Q		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1053					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					AGGATCTTCTCATTCTGCTGC	0.502000													6	131					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161776	141161776	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:141161776G>A	ENST00000514251.1	+	4	825	c.546G>A	c.(544-546)ccG>ccA	p.P182P	ZBTB38_ENST00000321464.5_Silent_p.P183P|ZBTB38_ENST00000441582.2_Silent_p.P182P			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	182					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTTTTCCCCGCTGGACTTGA	0.478000													9	98					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103826414	103826414	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:103826414G>C	ENST00000299238.5	+	1	1268	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	395						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		ACAGGGTGTTGAGTTGCCTTC	0.597000									Hermansky-Pudlak syndrome				20	32					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132223559	132223559	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:132223559G>C	ENST00000265343.5	-	16	3291	c.2912C>G	c.(2911-2913)tCa>tGa	p.S971*		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	971					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCGTCTCTGAATACATAGG	0.388000													5	51					0	0	1	0	0
MIR1269A	100302177	broad.mit.edu	37	4	67142553	67142553	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:67142553G>C	ENST00000408636.1	+	0	12					NR_031673.1																						ggattgcctagaccagggaag	0.562000													17	81					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151705004	151705004	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:151705004G>C	ENST00000392800.2	+	7	1255	c.1001G>C	c.(1000-1002)aGa>aCa	p.R334T	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Missense_Mutation_p.R334T	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	334	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TTTTGGGGAAGAGAAAATTTG	0.343000													10	71					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170695487	170695487	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:170695487C>T	ENST00000239461.6	+	3	857	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	PRRX1_ENST00000497230.2_Missense_Mutation_p.R182C|PRRX1_ENST00000367760.3_Missense_Mutation_p.R182C|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCGTACCTCGTCCTGCTCC	0.557000													12	131					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480979	32480979	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:32480979C>T	ENST00000266088.4	+	9	1228	c.978C>T	c.(976-978)ttC>ttT	p.F326F	SLC5A1_ENST00000543737.1_Silent_p.F199F	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	326					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.F326F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TGCCCATGTTCATCATGGTGA	0.502000													10	97					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74081811	74081811	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:74081811C>G	ENST00000607838.1	-	15	1726	c.1632G>C	c.(1630-1632)ctG>ctC	p.L544L	EXOC7_ENST00000405575.4_Silent_p.L544L|EXOC7_ENST00000467929.2_Silent_p.L493L|EXOC7_ENST00000332065.5_Silent_p.L490L|EXOC7_ENST00000411744.2_Silent_p.L513L|EXOC7_ENST00000589210.1_Silent_p.L521L|EXOC7_ENST00000335146.7_Silent_p.L572L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	572					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGATGGCGCTCAGAGCTGGGT	0.557000													7	133					0	0	1	0	0
LRRC37A16P	651250	broad.mit.edu	37	17	66126411	66126411	+	RNA	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:66126411C>T	ENST00000590019.1	-	0	350																											CAGACAGCCTCAATGCTATTT	0.403000													14	190					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141545487	141545487	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:141545487C>T	ENST00000442267.2	-	19	3029	c.2955G>A	c.(2953-2955)gtG>gtA	p.V985V		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	985						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GCTTTAGGCTCACCGTAACAA	0.378000													5	17					0	0	1	0	0
RAB18	22931	broad.mit.edu	37	10	27815762	27815762	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:27815762G>C	ENST00000356940.6	+	3	232	c.130G>C	c.(130-132)Gac>Cac	p.D44H	RAB18_ENST00000535776.1_Missense_Mutation_p.D44H|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Intron	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	44					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						TTAAGGTGTTGACTTTAAGGT	0.274000													6	109					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43539048	43539048	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:43539048C>G	ENST00000306846.3	-	5	1056	c.824G>C	c.(823-825)gGa>gCa	p.G275A	PAIP1_ENST00000338972.4_Missense_Mutation_p.G163A|PAIP1_ENST00000436644.2_Missense_Mutation_p.G196A|PAIP1_ENST00000514514.1_Missense_Mutation_p.G196A	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	275	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATAAAGTTCTCCCAGAAAGAG	0.358000													6	151					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16247412	16247412	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:16247412A>G	ENST00000375759.3	+	9	1887	c.1683A>G	c.(1681-1683)gaA>gaG	p.E561E		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	561	RRM 4.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCTACAATGAAATTGAATATG	0.393000													3	30					0	0	1	0	0
TPPP3	51673	broad.mit.edu	37	16	67424427	67424427	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:67424427G>A	ENST00000564104.1	-	2	1138	c.297C>T	c.(295-297)atC>atT	p.I99I	TPPP3_ENST00000290942.5_Silent_p.I99I|TPPP3_ENST00000393957.2_Silent_p.I99I|TPPP3_ENST00000562206.1_Silent_p.I99I			Q9BW30	TPPP3_HUMAN	tubulin polymerization-promoting protein family member 3	99					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		CCAGCTGGCAGATGGCATCGA	0.597000													106	39					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339779	131339779	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:131339779C>T	ENST00000358161.5	+	8	1192	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	SPTAN1_ENST00000372731.4_Missense_Mutation_p.S360L|SPTAN1_ENST00000372739.3_Missense_Mutation_p.S360L			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	360					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTCAATGATTCATACAGGTGC	0.463000													13	71					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	831823	831823	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:831823C>G	ENST00000233997.2	+	5	723	c.702C>G	c.(700-702)ctC>ctG	p.L234L		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	234	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGTGGCGCTCTTCCGAGACT	0.701000													25	81					0	0	1	0	0
GABRA3	2556	broad.mit.edu	37	X	151424363	151424363	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:151424363G>T	ENST00000370314.4	-	5	676	c.438C>A	c.(436-438)atC>atA	p.I146I	GABRA3_ENST00000535043.1_Silent_p.I146I	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	146					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCGGTGTCCAGATCTTACTAG	0.473000													10	61					2.17888e-05	2.31273e-05	1	1	0
CEL	1056	broad.mit.edu	37	9	135945930	135945930	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:135945930G>C	ENST00000372080.4	+	10	1394	c.1378G>C	c.(1378-1380)Gat>Cat	p.D460H	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	457					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CGACCATGCAGATGACATTCA	0.602000													44	98					0	0	1	0	0
BIVM	54841	broad.mit.edu	37	13	103459693	103459693	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:103459693G>A	ENST00000257336.1	+	3	755	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	BIVM_ENST00000491929.1_3'UTR|BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Missense_Mutation_p.E26K	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAGTCACCTGAAGAGAATCT	0.428000													23	33					0	0	1	0	0
MCRS1	10445	broad.mit.edu	37	12	49959970	49959970	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:49959970C>T	ENST00000550165.1	-	4	305	c.39G>A	c.(37-39)ctG>ctA	p.L13L	MCRS1_ENST00000546244.1_Intron|MCRS1_ENST00000343810.4_Silent_p.L13L|MCRS1_ENST00000357123.4_Silent_p.L26L			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	13	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CTGATGCCATCAGGGATGAAT	0.582000													4	77					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644945	169644945	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:169644945C>A	ENST00000428432.2	+	6	1284	c.895C>A	c.(895-897)Cca>Aca	p.P299T	SAMD7_ENST00000335556.3_Missense_Mutation_p.P299T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	299										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGTTTGCCCTCCAGTTCCTCG	0.507000													15	54					1.99824e-07	2.16954e-07	1	1	0
SERPINA5	5104	broad.mit.edu	37	14	95058573	95058573	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:95058573C>G	ENST00000329597.7	+	6	1428	c.1218C>G	c.(1216-1218)ccC>ccG	p.P406P	RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554866.1_Silent_p.P406P|SERPINA5_ENST00000554276.1_Silent_p.P406P|SERPINA5_ENST00000553780.1_Silent_p.P406P	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	406					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGAACCGCCCCTGAGGTGGGG	0.532000													49	196					0	0	1	0	0
PSPC1	55269	broad.mit.edu	37	13	20277422	20277422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:20277422G>A	ENST00000338910.4	-	9	1624	c.1465C>T	c.(1465-1467)Caa>Taa	p.Q489*		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	489	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATTGGTGCTTGAGGGGTTTCA	0.498000													7	75					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47611044	47611044	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:47611044C>T	ENST00000397728.3	-	22	2251	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	LSS_ENST00000522411.1_Missense_Mutation_p.E714K|LSS_ENST00000457828.2_Missense_Mutation_p.E645K|LSS_ENST00000356396.4_Missense_Mutation_p.E725K	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	725					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGGGCTCTCTCAGGGTACAGC	0.627000													7	49					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27565766	27565766	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27565766G>C	ENST00000359541.2	-	3	925	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	GTF3C2_ENST00000264720.3_Missense_Mutation_p.Q166E			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	166						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGAGATTGAGATTCTGGC	0.562000													13	87					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41475876	41475876	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:41475876G>C	ENST00000372621.4	+	18	2243	c.1735G>C	c.(1735-1737)Gaa>Caa	p.E579Q	CTPS1_ENST00000372616.1_Missense_Mutation_p.E579Q|CTPS1_ENST00000541520.1_Missense_Mutation_p.E348Q	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	579					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CCCTGACTCTGAAATCACCGA	0.408000													4	164					0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6314113	6314113	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:6314113C>T	ENST00000377893.2	-	3	710	c.451G>A	c.(451-453)Gac>Aac	p.D151N		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	151						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCGCTGGTGTCGTGCCAGCCA	0.632000													29	59					0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14738417	14738417	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:14738417G>C	ENST00000261658.2	+	2	491	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	BFAR_ENST00000563971.1_Missense_Mutation_p.E72Q|BFAR_ENST00000426842.2_Missense_Mutation_p.R12T	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	72					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGAATGTCCAGAATGCAGAGA	0.463000													46	58					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9546884	9546884	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:9546884G>C	ENST00000396602.2	+	15	1903	c.1784G>C	c.(1783-1785)aGa>aCa	p.R595T	ZNF143_ENST00000530463.1_Missense_Mutation_p.R594T|ZNF143_ENST00000299606.2_Missense_Mutation_p.R567T|ZNF143_ENST00000396604.1_Missense_Mutation_p.R594T|ZNF143_ENST00000396597.3_Missense_Mutation_p.R564T	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	595					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGAAACCAGACCTCTGACC	0.493000													17	68					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183771	11183771	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:11183771C>T	ENST00000390675.2	-	1	235	c.164G>A	c.(163-165)aGa>aAa	p.R55K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	55					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						CAAACCAACTCTGGAGACCGC	0.388000													12	141					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007270	6007270	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:6007270C>G	ENST00000399933.3	-	1	517	c.518G>C	c.(517-519)gGa>gCa	p.G173A	KIAA2026_ENST00000381461.2_Missense_Mutation_p.G173A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	173										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTGGTCCACTCCGTGCAGGCG	0.612000													18	93					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39978063	39978063	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:39978063G>A	ENST00000321562.4	+	9	1661	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	FKBP10_ENST00000544340.1_Silent_p.P292P	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	519	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		AGGTCCCTCCGGAGGAGGTGG	0.602000													20	109					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29592266	29592266	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:29592266G>C	ENST00000358273.4	+	36	5127	c.4744G>C	c.(4744-4746)Gaa>Caa	p.E1582Q	NF1_ENST00000356175.3_Missense_Mutation_p.E1561Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1582	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATGAAAAAGAAGAATTCAA	0.323000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	71					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47904114	47904114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:47904114C>T	ENST00000503935.2	+	14	2255	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	KAT7_ENST00000454930.2_Nonsense_Mutation_p.Q424*|KAT7_ENST00000435742.2_Nonsense_Mutation_p.Q377*|KAT7_ENST00000259021.4_Nonsense_Mutation_p.Q563*|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000509773.1_Nonsense_Mutation_p.Q453*|KAT7_ENST00000424009.2_Nonsense_Mutation_p.Q533*|KAT7_ENST00000510819.1_Nonsense_Mutation_p.Q394*			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	563					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										GCAAGCCCTTCAGATGCTCAA	0.473000													20	125					0	0	1	0	0
PVRL4	81607	broad.mit.edu	37	1	161043042	161043042	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:161043042G>C	ENST00000368012.3	-	8	1583	c.1281C>G	c.(1279-1281)ctC>ctG	p.L427L	PVRL4_ENST00000453926.2_Intron|PVRL4_ENST00000486694.1_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	427					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGTTGTCCTTGAGACTATCAG	0.652000													10	121					0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53696897	53696897	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53696897C>G	ENST00000267103.5	+	3	461	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V	C12orf10_ENST00000548632.1_Missense_Mutation_p.L113V|C12orf10_ENST00000549488.1_Intron	NM_021640.3	NP_067653	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	137										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						ACTCATCTATCTGCACTTCGG	0.597000													13	150					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443774	4443774	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:4443774C>G	ENST00000254718.4	-	25	3609	c.3303G>C	c.(3301-3303)ctG>ctC	p.L1101L	MYBBP1A_ENST00000381556.2_Silent_p.L1101L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1101					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGTCCAAGGTCAGCTTCTGCA	0.677000													4	26					0	0	1	0	0
GPER1	2852	broad.mit.edu	37	7	1132338	1132338	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:1132338G>A	ENST00000397092.1	+	3	1858	c.974G>A	c.(973-975)aGc>aAc	p.S325N	GPER1_ENST00000297469.3_Missense_Mutation_p.S325N|GPER1_ENST00000397088.3_Missense_Mutation_p.S325N|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Missense_Mutation_p.S325N	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	325																	CTCATCTACAGCTTTCTCGGG	0.587000													10	109					0	0	1	0	0
SPG21	51324	broad.mit.edu	37	15	65266966	65266966	+	Translation_Start_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:65266966G>C	ENST00000559199.1	-	0	964				SPG21_ENST00000416889.2_Missense_Mutation_p.I115M|SPG21_ENST00000433215.2_Missense_Mutation_p.I142M|SPG21_ENST00000204566.2_Missense_Mutation_p.I142M			Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)						cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTTGGTTGAAGATAGAGGTGT	0.383000													16	45					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223795383	223795383	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:223795383C>G	ENST00000357430.3	+	14	2116	c.1585C>G	c.(1585-1587)Ctt>Gtt	p.L529V	ACSL3_ENST00000392066.3_Missense_Mutation_p.L529V	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	529					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGGTGAAATTCTTATTGGGGG	0.348000			T	ETV1	prostate								7	15					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98428950	98428950	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:98428950G>A	ENST00000186436.5	-	17	2025	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	599						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TAGTTCTATTGCCTCTTTCCA	0.323000													4	51					0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10444638	10444638	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:10444638G>T	ENST00000589261.1	-	7	1840	c.1308C>A	c.(1306-1308)caC>caA	p.H436Q	ICAM3_ENST00000160262.5_Missense_Mutation_p.H513Q			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	513	Ig-like C2-type 5.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CGCTCCGTTGGTGCTCCCTGA	0.582000													12	149					5.50884e-06	5.88798e-06	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85406271	85406271	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:85406271G>T	ENST00000359152.5	-	12	5309	c.5310C>A	c.(5308-5310)ctC>ctA	p.L1770L	SYTL2_ENST00000389958.3_Silent_p.L355L|SYTL2_ENST00000524452.1_Silent_p.L900L|SYTL2_ENST00000527523.1_Silent_p.L892L|SYTL2_ENST00000528231.1_Silent_p.L924L|SYTL2_ENST00000316356.4_Silent_p.L925L|SYTL2_ENST00000389960.4_Silent_p.L900L|SYTL2_ENST00000529581.1_Silent_p.L366L|SYTL2_ENST00000533892.1_Silent_p.L326L|SYTL2_ENST00000525702.1_Silent_p.L366L|SYTL2_ENST00000525423.1_Silent_p.L1246L|SYTL2_ENST00000354566.3_Silent_p.L1262L	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	924					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AAAGCATTCTGAGAGGCAGTG	0.453000													13	88					1.61879e-10	1.78279e-10	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140723632	140723632	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140723632G>C	ENST00000253812.6	+	1	32	c.32G>C	c.(31-33)aGa>aCa	p.R11T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAATGGCAGAGGACTGGCC	0.517000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	173					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063255	9063255	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9063255G>C	ENST00000397910.4	-	3	24394	c.24191C>G	c.(24190-24192)tCc>tGc	p.S8064C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8066	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCAGAACTGGAGGTCCCCAC	0.473000													6	88					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118502418	118502418	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:118502418G>C	ENST00000311085.8	+	22	5158	c.5078G>C	c.(5077-5079)aGa>aCa	p.R1693T	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1693T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1693										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)		GGCAAACAAAGATTTGAACAT	0.358000													6	42					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62416032	62416032	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62416032G>A	ENST00000330574.2	-	2	1572	c.1520C>T	c.(1519-1521)tCt>tTt	p.S507F		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	507					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GGTATAGACAGACAGCAGGCC	0.562000													75	62					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126495430	126495430	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:126495430G>C	ENST00000298492.5	+	2	148	c.103G>C	c.(103-105)Gag>Cag	p.E35Q		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	35	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						GGTAAGACAAGAGGAAACGTT	0.299000													24	33					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412534	130412534	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:130412534C>G	ENST00000370904.1	-	18	2825	c.1915G>C	c.(1915-1917)Ggc>Cgc	p.G639R	IGSF1_ENST00000370910.1_Missense_Mutation_p.G639R|IGSF1_ENST00000370903.3_Missense_Mutation_p.G653R|IGSF1_ENST00000361420.3_Missense_Mutation_p.G648R			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	648	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTCAGGGCGCCAAGGGGGAAG	0.637000													8	66					0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160151573	160151573	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:160151573C>T	ENST00000368081.4	+	19	3307	c.2836C>T	c.(2836-2838)Cgc>Tgc	p.R946C	ATP1A4_ENST00000418334.1_3'UTR|ATP1A4_ENST00000470705.1_Missense_Mutation_p.R82C	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	946					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCCAAGACTCGCCGCAACTC	0.532000													13	178					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40012807	40012807	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:40012807G>A	ENST00000308666.3	-	1	746	c.611C>T	c.(610-612)gCa>gTa	p.A204V		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	204	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTCAGGGTTTGCCAGCCTCCC	0.413000													47	55					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128481553	128481553	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:128481553G>T	ENST00000325888.8	+	13	2314	c.2053G>T	c.(2053-2055)Gac>Tac	p.D685Y	FLNC_ENST00000346177.6_Missense_Mutation_p.D685Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	685					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGCATCGTGGACAAGCCCGC	0.607000													46	226					3.05275e-18	3.43007e-18	1	1	0
TOM1L2	146691	broad.mit.edu	37	17	17752140	17752140	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:17752140C>G	ENST00000581396.1	-	13	1318	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	TOM1L2_ENST00000542206.1_Missense_Mutation_p.E339Q|TOM1L2_ENST00000478943.1_Missense_Mutation_p.E191Q|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E413Q|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E340Q|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E413Q|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E434Q|TOM1L2_ENST00000379504.3_Missense_Mutation_p.E458Q	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	458					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					GCCATACCTTCACTTGTGACA	0.597000													18	97					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8713961	8713961	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:8713961G>A	ENST00000378641.3	+	19	2440	c.1965G>A	c.(1963-1965)atG>atA	p.M655I	PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.M655I|PLCB1_ENST00000338037.6_Missense_Mutation_p.M655I	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	655	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CAGAGTTCATGAGGAGGCCTG	0.423000													7	84					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716151	13716151	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:13716151C>G	ENST00000609686.1	-	13	4230	c.4021G>C	c.(4021-4023)Gag>Cag	p.E1341Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCTGACATCTCAAACATGTGG	0.612000													7	95					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21304814	21304814	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:21304814G>C	ENST00000259555.4	-	1	498	c.442C>G	c.(442-444)Caa>Gaa	p.Q148E		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	148					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTGATTCTTTGAAAGTATTTT	0.448000													24	154					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30374958	30374958	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:30374958G>C	ENST00000333027.3	+	5	455	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	MTMR3_ENST00000401950.2_Missense_Mutation_p.E43Q|MTMR3_ENST00000415511.1_3'UTR|MTMR3_ENST00000406629.1_Missense_Mutation_p.E43Q|MTMR3_ENST00000323630.5_5'UTR|MTMR3_ENST00000351488.3_Missense_Mutation_p.E43Q	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	43					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AGAGAGCACAGAGTTTGTGGG	0.413000													10	51					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52761071	52761071	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:52761071C>T	ENST00000257901.3	-	1	194	c.119G>A	c.(118-120)cGa>cAa	p.R40Q		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	40	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGACACCCCTCGGTAGGGGGC	0.672000													8	56					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53570253	53570253	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:53570253C>T	ENST00000025008.5	-	15	2659	c.2136G>A	c.(2134-2136)caG>caA	p.Q712Q	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Silent_p.Q712Q|RB1CC1_ENST00000435644.2_Silent_p.Q712Q	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	712					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GGTGAATAGTCTGTTCTATGT	0.348000													5	83					0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4797371	4797371	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:4797371C>G	ENST00000299320.5	+	9	1786	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Silent_p.L453L	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	436										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCCAGCTTCTCCAGCAGCTCA	0.642000													24	135					0	0	1	0	0
APOE	348	broad.mit.edu	37	19	45412502	45412502	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:45412502C>T	ENST00000252486.4	+	4	1060	c.949C>T	c.(949-951)Cac>Tac	p.H317Y		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	317					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCGACAATCACTGAACGCC	0.726000													20	37					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374763	135374763	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:135374763C>T	ENST00000343036.2	+	4	456	c.408C>T	c.(406-408)atC>atT	p.I136I	C9orf171_ENST00000393216.2_Silent_p.I100I|C9orf171_ENST00000393215.3_Silent_p.I100I	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	136										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CCTCAGCCATCGGACGCTGGA	0.642000													10	81					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36984858	36984858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:36984858C>T	ENST00000282516.8	+	10	2075	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q526*|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	526					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCAGCTTCTCAGGAGACGGG	0.433000													34	363					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14555218	14555218	+	RNA	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:14555218C>T	ENST00000273083.3	-	0	1658							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGGGCCAGTGCGGCGTCCCGC	0.637000													10	11					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877409	39877409	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39877409C>G	ENST00000530275.1	+	1	1259	c.1064C>G	c.(1063-1065)tCt>tGt	p.S355C	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	355										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATCAAATCTCTTCTGAAGGG	0.418000													21	137					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46718218	46718218	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:46718218C>G	ENST00000318962.4	-	18	2025	c.1942G>C	c.(1942-1944)Gag>Cag	p.E648Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E648Q|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	648					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACACTGTCCTCAGGGTGGGTC	0.657000													10	82					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	9017104	9017104	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:9017104G>A	ENST00000344836.4	-	3	549	c.351C>T	c.(349-351)ttC>ttT	p.F117F	USP7_ENST00000535863.1_Silent_p.F18F|USP7_ENST00000381886.4_Silent_p.F101F	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	117	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTGGAGAAAGAATCCTACGC	0.418000													13	80					0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12292618	12292618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:12292618G>T	ENST00000379375.5	+	2	376	c.109G>T	c.(109-111)Gag>Tag	p.E37*		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	37					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				GAACGGCGGGGAGAAACCCAC	0.617000													5	93					0.014758	0.0150053	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64473812	64473812	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:64473812G>A	ENST00000358025.3	+	31	4679	c.4449G>A	c.(4447-4449)gaG>gaA	p.E1483E	SYNE2_ENST00000554584.1_Silent_p.E1483E|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.E1483E	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1483					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATGAAGAAGAGAAGAGACATT	0.348000													24	121					0	0	1	0	0
IDI1	3422	broad.mit.edu	37	10	1087390	1087390	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:1087390C>G	ENST00000381344.3	-	5	758	c.592G>C	c.(592-594)Gat>Cat	p.D198H	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000437374.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	141	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		CAGATACCATCAGACTGAGCT	0.328000													4	31					0	0	1	0	0
ZNF66	7617	broad.mit.edu	37	19	20975348	20975348	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:20975348G>C	ENST00000344519.8	+	2	57	c.34G>C	c.(34-36)Gaa>Caa	p.E12Q	ZNF66_ENST00000360204.5_5'UTR|ZNF66_ENST00000594534.1_Missense_Mutation_p.E12Q|ZNF66_ENST00000425625.1_Missense_Mutation_p.E58Q																							TGTGGCCATAGAATTCTCTCT	0.418000													8	84					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41916634	41916634	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41916634C>T	ENST00000269980.2	+	2	569	c.201C>T	c.(199-201)ttC>ttT	p.F67F	CTC-435M10.3_ENST00000604424.1_3'UTR|CTC-435M10.3_ENST00000540732.1_Silent_p.F101F|BCKDHA_ENST00000595085.1_Silent_p.F101F|BCKDHA_ENST00000457836.2_Silent_p.F45F	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	67					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						AGTTGGAATTCATCCAGCCCA	0.597000													5	160					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874302	151874302	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:151874302C>T	ENST00000355193.2	-	38	8454	c.8236G>A	c.(8236-8238)Gat>Aat	p.D2746N	KMT2C_ENST00000262189.6_Missense_Mutation_p.D2746N					lysine (K)-specific methyltransferase 2C																		AAGAGGTCATCCAGGTTGGGA	0.358000													15	48					0	0	1	0	0
C6orf57	135154	broad.mit.edu	37	6	71298350	71298350	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:71298350G>C	ENST00000370474.3	+	3	274	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q		NM_145267.2	NP_660310.2	Q5VUM1	CF057_HUMAN	chromosome 6 open reading frame 57	84						extracellular region				kidney(1)|lung(1)|skin(1)	3						AGTGACCAAAGAAAAAGGTGG	0.388000													6	29					0	0	1	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710180	112710180	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:112710180G>C	ENST00000383677.3	+	1	349	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	GTPBP8_ENST00000383678.2_Missense_Mutation_p.E112Q	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	112					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						TCCGCGGCCAGAGGTGAGAGG	0.642000													5	48					0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225591140	225591140	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:225591140G>C	ENST00000338179.2	-	14	1838	c.1713C>G	c.(1711-1713)ttC>ttG	p.F571L	LBR_ENST00000272163.4_Missense_Mutation_p.F571L	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	571					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAATTATGTAGAAATAAGGCA	0.378000													5	23					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523809	24523809	+	Missense_Mutation	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:24523809A>T	ENST00000376862.3	+	2	709	c.76A>T	c.(76-78)Att>Ttt	p.I26F		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	26					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GAATGGTTTAATTAACACCAG	0.547000													7	123					0	0	1	0	0
LY9	4063	broad.mit.edu	37	1	160783521	160783521	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:160783521G>C	ENST00000368037.5	+	3	664	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	LY9_ENST00000341032.4_Missense_Mutation_p.E184Q|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000263285.6_Missense_Mutation_p.E184Q|LY9_ENST00000392203.4_Missense_Mutation_p.E184Q|LY9_ENST00000368041.2_Missense_Mutation_p.E144Q	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAAGGGGGCAGAGAAAAGTGT	0.532000													27	215					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18502812	18502812	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:18502812C>T	ENST00000339007.3	-	2	1556	c.903G>A	c.(901-903)gtG>gtA	p.V301V	LRRC25_ENST00000595840.1_Silent_p.V301V	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	301						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCCCGGGGATCACGTACTCCT	0.567000													6	40					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78210772	78210772	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:78210772C>T	ENST00000361193.3	+	8	1062	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SLC26A11_ENST00000546047.2_Missense_Mutation_p.S261F|SLC26A11_ENST00000411502.3_Missense_Mutation_p.S261F|SLC26A11_ENST00000572725.1_Missense_Mutation_p.S261F	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	261						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTTGCGTACTCCTTCGAGGTG	0.627000													201	112					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747363	121747363	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:121747363C>G	ENST00000452319.1	+	14	3933	c.3873C>G	c.(3871-3873)gaC>gaG	p.D1291E	GLI2_ENST00000361492.4_Missense_Mutation_p.D1291E|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1291					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGGCACCTGACCCCACCACGA	0.632000													3	34					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51281091	51281091	+	Missense_Mutation	SNP	G	G	C	rs147804767	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:51281091G>C	ENST00000398458.3	+	5	874	c.842G>C	c.(841-843)aGa>aCa	p.R281T	TMPRSS12_ENST00000551456.1_3'UTR	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	281	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.R281I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAATATAAAAGATTTTTTGTA	0.408000													8	48					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8419925	8419925	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:8419925C>G	ENST00000337907.3	-	20	4151	c.3517G>C	c.(3517-3519)Gag>Cag	p.E1173Q	RERE_ENST00000400908.2_Missense_Mutation_p.E1173Q|RERE_ENST00000377464.1_Missense_Mutation_p.E905Q|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.E619Q	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1173					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E1173K(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGCTCAGCCTCGCGCTTGGCC	0.662000													18	41					0	0	1	0	0
ACER2	340485	broad.mit.edu	37	9	19435060	19435060	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:19435060C>G	ENST00000340967.2	+	4	507	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V	ACER2_ENST00000380376.1_Missense_Mutation_p.L112V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	161					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						TTGCACTGCACTGCTCATCGC	0.557000													4	55					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65239526	65239526	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:65239526C>T	ENST00000389722.3	-	25	5378	c.5325G>A	c.(5323-5325)ctG>ctA	p.L1775L	SPTB_ENST00000389721.5_Silent_p.L1775L|SPTB_ENST00000389720.3_Silent_p.L1775L|SPTB_ENST00000542895.1_Silent_p.L1775L|SPTB_ENST00000556626.1_Silent_p.L1775L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1775					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACATCTCGTTCAGCCCGTCCT	0.632000													5	69					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55038159	55038159	+	Silent	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:55038159A>C	ENST00000240316.4	-	1	256	c.222T>G	c.(220-222)ctT>ctG	p.L74L		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	74						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					TGTCTCTCACAAGGCGCGCGC	0.726000													4	9					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436181	11436181	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:11436181C>T	ENST00000222120.3	-	5	813	c.553G>A	c.(553-555)Gag>Aag	p.E185K	TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Missense_Mutation_p.E185K	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	185					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TTCATCTTCTCGCAGATGACA	0.587000													15	60					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84592674	84592674	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:84592674C>T	ENST00000286744.5	+	17	2230	c.2006C>T	c.(2005-2007)gCa>gTa	p.A669V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.A669V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	669						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAGCCATAGCAGTGTGCTTA	0.448000													14	32					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183013200	183013200	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:183013200C>G	ENST00000328913.3	-	13	1860	c.1563G>C	c.(1561-1563)gtG>gtC	p.V521V	MCF2L2_ENST00000473233.1_Silent_p.V521V|MCF2L2_ENST00000447025.2_Silent_p.V521V|MCF2L2_ENST00000414362.2_Silent_p.V521V|B3GNT5_ENST00000462559.1_Intron	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	521					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCATCAGACTCACTTGCCTCT	0.478000													4	64					0	0	1	0	0
FASTKD5	60493	broad.mit.edu	37	20	3128967	3128967	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:3128967G>C	ENST00000380266.3	-	2	1071	c.750C>G	c.(748-750)ctC>ctG	p.L250L	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	250					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AGTACCTCCAGAGATCAGCCA	0.423000													3	49					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721753	135721753	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:135721753G>C	ENST00000264977.3	+	2	2030	c.1413G>C	c.(1411-1413)aaG>aaC	p.K471N	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	471					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAATTGGTAAGATATTTGAGA	0.328000													6	73					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74479482	74479482	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:74479482C>A	ENST00000394019.2	-	16	1699	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.Q434H|SLC4A5_ENST00000423644.1_Missense_Mutation_p.Q434H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.Q434H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.Q434H|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.Q370H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.Q434H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.Q370H	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	434	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCATTCATCTGGCCCAGCT	0.637000													4	77					0.00909568	0.00928428	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764043	140764043	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140764043G>C	ENST00000518325.1	+	1	1577	c.1577G>C	c.(1576-1578)aGa>aCa	p.R526T	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCAGTTGAGAGAACTACAA	0.532000													10	61					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203847103	203847103	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:203847103G>C	ENST00000402905.3	+	15	2319	c.1998G>C	c.(1996-1998)cgG>cgC	p.R666R	CARF_ENST00000438828.2_Silent_p.R666R|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Silent_p.R564R|CARF_ENST00000545262.1_Silent_p.R590R|CARF_ENST00000545253.1_Silent_p.R578R|CARF_ENST00000320443.8_Silent_p.R666R|CARF_ENST00000428585.1_Silent_p.R590R	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		CTGTTCATCGGATTCTGTTGG	0.398000													22	37					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111287895	111287895	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:111287895C>A	ENST00000309957.2	+	8	746	c.732C>A	c.(730-732)gtC>gtA	p.V244V	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000458711.2_Silent_p.V113V|CARKD_ENST00000424185.2_Silent_p.V134V	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	244	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						TGACGGTGGTCCAGAAAGGAG	0.607000													20	104					2.27731e-05	2.41622e-05	1	1	0
C1orf172	126695	broad.mit.edu	37	1	27278244	27278244	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:27278244G>A	ENST00000320567.5	-	2	716	c.628C>T	c.(628-630)Cct>Tct	p.P210S		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	210										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GAGCCACGAGGACTACTGGCA	0.617000													7	71					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62437138	62437138	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62437138G>A	ENST00000431002.2	-	1	2099	c.366C>T	c.(364-366)ttC>ttT	p.F122F	C11orf48_ENST00000532208.1_Silent_p.F96F|C11orf48_ENST00000354588.3_Silent_p.F96F			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	122										endometrium(1)|lung(5)|urinary_tract(1)	7						GGTCTTGGAAGAAGGCCTCAG	0.542000													18	170					0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77806039	77806039	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:77806039G>A	ENST00000306735.5	+	7	1054	c.916G>A	c.(916-918)Gac>Aac	p.D306N	RBFA_ENST00000262197.7_3'UTR|RP11-795F19.5_ENST00000564012.1_Intron|RP11-795F19.5_ENST00000569722.1_Intron	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	306					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						AGATGACCTGGACCTGGTTGG	0.597000													13	31					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45134888	45134888	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:45134888G>C	ENST00000296129.1	-	6	1642	c.1508C>G	c.(1507-1509)tCt>tGt	p.S503C		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	503	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTGCTTGATAGAGCCTCCCGG	0.597000													16	98					0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95173958	95173958	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:95173958G>C	ENST00000354268.4	+	9	1154	c.1081G>C	c.(1081-1083)Gat>Cat	p.D361H	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D361H			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	361					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CTCTGAATATGATTCAGGTTC	0.338000													45	32					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123170738	123170738	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:123170738G>A	ENST00000264501.4	+	36	5984	c.5611G>A	c.(5611-5613)Gat>Aat	p.D1871N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1871N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1871N			Q2LD37	K1109_HUMAN	KIAA1109	1871					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGATGAAACTGATCAGCAAGC	0.378000													7	58					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42438344	42438344	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:42438344C>G	ENST00000397272.3	-	14	1612	c.1521G>C	c.(1519-1521)ttG>ttC	p.L507F	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.L505F	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	505	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTTCCCCACTCAAGTTGGTGC	0.597000													10	50					0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42351819	42351819	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:42351819C>T	ENST00000269945.3	+	3	291	c.240C>T	c.(238-240)gtC>gtT	p.V80V	DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Silent_p.V80V	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	80					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GCCGCAGGGTCATGGCTGCCC	0.597000													9	47					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51634108	51634108	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:51634108C>T	ENST00000335449.6	+	1	283	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	76					cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGCCGCGCGCCGCGCGGGGCG	0.751000													6	26					0	0	1	0	0
SYNGR2	9144	broad.mit.edu	37	17	76166981	76166981	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:76166981C>T	ENST00000225777.3	+	2	242	c.183C>T	c.(181-183)ttC>ttT	p.F61F	SYNGR2_ENST00000589711.1_Intron|SYNGR2_ENST00000588282.1_Silent_p.F61F|SYNGR2_ENST00000585591.1_Silent_p.F61F|SYNGR2_ENST00000590201.1_Silent_p.F5F|SYNGR2_ENST00000592456.1_3'UTR			O43760	SNG2_HUMAN	synaptogyrin 2	61	MARVEL.					integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			ACTGCGTGTTCAACCGCAACG	0.597000													22	256					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28623559	28623559	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:28623559G>C	ENST00000380982.4	-	8	1079	c.998C>G	c.(997-999)tCa>tGa	p.S333*	FLT3_ENST00000241453.7_Nonsense_Mutation_p.S333*|FLT3_ENST00000537084.1_Nonsense_Mutation_p.S333*			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	333	Ig-like C2-type.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGATGCTTTGAAGAGGAACA	0.408000			"""Mis, O"""		"""AML, ALL"""								7	200					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965114	42965114	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:42965114C>T	ENST00000399770.2	+	2	590	c.590C>T	c.(589-591)tCc>tTc	p.S197F		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	197	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAAGCTCCTTCCCTCCCTGTT	0.433000													22	443					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825235	4825235	+	Missense_Mutation	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:4825235A>T	ENST00000380382.1	-	1	612	c.613T>A	c.(613-615)Tac>Aac	p.Y205N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.Y126N			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAGCCACGTAGCAGTCCAGG	0.552000													5	86					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828708	13828708	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:13828708G>A	ENST00000609686.1	-	4	1305	c.1096C>T	c.(1096-1098)Ctt>Ttt	p.L366F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTTCAGAAGAATTATCACC	0.393000													11	69					0	0	1	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123706280	123706280	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:123706280C>T	ENST00000606320.1	-	5	717	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.E19K|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.E19K|MPHOSPH9_ENST00000539639.1_5'UTR|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.E141K			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	19					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TCTGTGGATTCAGGATAATGG	0.388000													9	56					0	0	1	0	0
SNX30	401548	broad.mit.edu	37	9	115593102	115593102	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:115593102G>C	ENST00000374232.3	+	4	721	c.557G>C	c.(556-558)aGa>aCa	p.R186T		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	186	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTTCTAAAAAGAATTACGGAC	0.383000													5	38					0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21715910	21715910	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:21715910G>A	ENST00000261195.2	-	7	1258	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	335				SN -> FKT (in Ref. 3; BAA06154).	glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCCTTTGTTTGAAAACTCATA	0.378000													5	127					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74546756	74546756	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:74546756G>C	ENST00000299563.4	+	6	1121	c.1108G>C	c.(1108-1110)Gag>Cag	p.E370Q		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	370							zinc ion binding	p.E370Q(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						TGTCAGCCCTGAGAGCAATGA	0.532000													32	119					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56486813	56486813	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:56486813C>A	ENST00000267101.3	+	11	1667	c.1227C>A	c.(1225-1227)ttC>ttA	p.F409L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.F350L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	409					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCACAACTTCAGTGTTTTTT	0.502000													5	34					0.014758	0.0150053	1	1	0
TDRKH	11022	broad.mit.edu	37	1	151751377	151751377	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:151751377C>T	ENST00000368822.1	-	6	1300	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	TDRKH_ENST00000458431.2_Missense_Mutation_p.E223K|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.E219K|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368825.3_Missense_Mutation_p.E178K|TDRKH_ENST00000368824.3_Missense_Mutation_p.E223K|TDRKH_ENST00000368827.6_Missense_Mutation_p.E223K			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	223							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTCATGTCTTCTCTTCTCACA	0.502000													6	253					0	0	1	0	0
LZIC	84328	broad.mit.edu	37	1	9991955	9991955	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:9991955C>G	ENST00000377223.1	-	7	755	c.508G>C	c.(508-510)Gac>Cac	p.D170H	LZIC_ENST00000400903.2_Missense_Mutation_p.D170H|LZIC_ENST00000377213.1_Missense_Mutation_p.D170H|LZIC_ENST00000541052.1_Missense_Mutation_p.D191H	NM_032368.3	NP_115744.2	Q8WZA0	LZIC_HUMAN	leucine zipper and CTNNBIP1 domain containing	170							beta-catenin binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.29e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;0.000242)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.00842)|READ - Rectum adenocarcinoma(331;0.0419)		TCACCAAGGTCTGTAGAGACT	0.403000													5	14					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17444527	17444527	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:17444527C>G	ENST00000159087.4	-	2	347	c.189G>C	c.(187-189)gaG>gaC	p.E63D		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	63						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CGTCGCAGTTCTCTGTAGGCA	0.647000													6	15					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29813602	29813602	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:29813602C>G	ENST00000375398.2	-	16	2834	c.2385G>C	c.(2383-2385)caG>caC	p.Q795H	SVIL_ENST00000375400.3_Missense_Mutation_p.Q369H|SVIL_ENST00000355867.4_Missense_Mutation_p.Q795H			O95425	SVIL_HUMAN	supervillin	795					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTCATTTGTCTGGTCCTTGG	0.458000													32	137					0	0	1	0	0
AP1M2	10053	broad.mit.edu	37	19	10691955	10691955	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:10691955G>T	ENST00000590923.1	-	6	743	c.660C>A	c.(658-660)ttC>ttA	p.F220L	AP1M2_ENST00000250244.6_Missense_Mutation_p.F220L			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	220	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAGTGAGCTCGAAGAGCACGC	0.572000											OREG0025241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	94					0.00185496	0.00191212	1	1	0
SPATA5L1	79029	broad.mit.edu	37	15	45709498	45709498	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:45709498G>C	ENST00000305560.6	+	6	1968	c.1869G>C	c.(1867-1869)atG>atC	p.M623I		NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	623						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GAAGTGTCATGATTATTGCAG	0.348000													4	40					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122359491	122359491	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:122359491G>C	ENST00000288912.4	+	2	1134	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	WDR66_ENST00000397454.2_Missense_Mutation_p.E94Q	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	94	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGGAATACAGGAAGAAACCAC	0.483000													29	40					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155717411	155717411	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:155717411G>C	ENST00000452804.2	+	7	679	c.618G>C	c.(616-618)aaG>aaC	p.K206N	MSTO1_ENST00000538143.1_3'UTR			Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	206					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AGGAACCCAAGTACCAGGAAG	0.532000													16	43					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859566	131859566	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:131859566C>T	ENST00000359827.3	-	21	4950	c.3988G>A	c.(3988-3990)Gaa>Aaa	p.E1330K	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1330K			Q9HCM2	PLXA4_HUMAN	plexin A4	1330						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGGTGGTCTTCAATTCCTGGG	0.567000													9	140					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	62934344	62934344	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:62934344G>C	ENST00000263991.5	+	2	500	c.18G>C	c.(16-18)aaG>aaC	p.K6N	EHBP1_ENST00000354487.3_Missense_Mutation_p.K6N|EHBP1_ENST00000431489.1_Missense_Mutation_p.K6N|EHBP1_ENST00000405289.1_Missense_Mutation_p.K6N|EHBP1_ENST00000405015.3_Missense_Mutation_p.K6N	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	6						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			CAGTTTGGAAGAGACTGCAGC	0.468000													5	124					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214149337	214149337	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:214149337C>T	ENST00000331683.5	+	1	225	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	SPAG16_ENST00000432529.2_Silent_p.L44L|SPAG16_ENST00000447990.1_Silent_p.L44L|SPAG16_ENST00000413312.1_5'UTR|SPAG16_ENST00000272898.7_Silent_p.L44L	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	44					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CGCCTACTACCTGGAACGTAT	0.706000													6	13					0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25301091	25301091	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:25301091G>C	ENST00000400358.4	+	21	2812	c.2755G>C	c.(2755-2757)Gag>Cag	p.E919Q	SGSM1_ENST00000400359.4_Missense_Mutation_p.E974Q	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	974	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGCACATTGAGATCGGCTA	0.557000													33	128					0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151021207	151021207	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:151021207G>T	ENST00000368926.5	+	1	992	c.884G>T	c.(883-885)aGa>aTa	p.R295I	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	295						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCCACCTCAGAAGCAGTCCC	0.592000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	465					3.35478e-16	3.76133e-16	1	1	0
PCNA	5111	broad.mit.edu	37	20	5096157	5096157	+	Missense_Mutation	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:5096157A>C	ENST00000379160.3	-	6	886	c.644T>G	c.(643-645)tTt>tGt	p.F215C	PCNA_ENST00000379143.5_Missense_Mutation_p.F215C	NM_002592.2	NP_002583.1	P12004	PCNA_HUMAN	proliferating cell nuclear antigen	215					cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis	cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex	dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)	9						GGCTTTTGTAAAGAAGTTCAG	0.373000								DNA polymerases (catalytic subunits)					10	110					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12142258	12142258	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:12142258C>T	ENST00000263035.4	+	9	1815	c.1753C>T	c.(1753-1755)Caa>Taa	p.Q585*		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	585					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTACTTGCTCAAGGTAAGAA	0.453000													83	68					0	0	1	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2273490	2273490	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:2273490C>T	ENST00000290974.2	-	11	2679	c.2340G>A	c.(2338-2340)cgG>cgA	p.R780R	ZFYVE28_ENST00000511071.1_Silent_p.R750R|ZFYVE28_ENST00000515312.1_Silent_p.R710R|ZFYVE28_ENST00000508471.1_Silent_p.R85R	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	780					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						AGGCCGCACTCCGCAGAGTCT	0.627000													7	171					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111640907	111640907	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:111640907C>G	ENST00000374647.5	-	34	4003	c.3696G>C	c.(3694-3696)ctG>ctC	p.L1232L	IKBKAP_ENST00000537196.1_Silent_p.L883L	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1232					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATATACCTTTCAGGTTTTCAG	0.493000													19	203					0	0	1	0	0
GZMM	3004	broad.mit.edu	37	19	548925	548925	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:548925G>C	ENST00000264553.3	+	4	390	c.352G>C	c.(352-354)Gac>Cac	p.D118H		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	118	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGTAGCTGGACGGGAAAGT	0.731000													3	18					0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977944	53977944	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:53977944C>T	ENST00000263634.3	-	3	465	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ASB3_ENST00000406625.2_Missense_Mutation_p.E146K|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.E38K|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.E38K|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.E149K|ASB3_ENST00000498475.2_Intron	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		146					intracellular signal transduction												GTCGTTTCTTCTAAAGTAGTT	0.353000													4	85					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109026935	109026935	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:109026935G>T	ENST00000478945.1	-	6	848	c.602C>A	c.(601-603)gCt>gAt	p.A201D		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	201						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAATTCAAAGCCTTAGGCTG	0.468000													5	64					0.000602214	0.000624971	1	1	0
FAM53C	51307	broad.mit.edu	37	5	137682532	137682532	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:137682532G>A	ENST00000239906.5	+	5	1491	c.1063G>A	c.(1063-1065)Gaa>Aaa	p.E355K	FAM53C_ENST00000513056.1_3'UTR|FAM53C_ENST00000434981.2_Missense_Mutation_p.E355K	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	355										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGTGCTGAGTGAAAGCGAAGA	0.637000													26	39					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24870487	24870487	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:24870487G>A	ENST00000313367.2	-	16	2235	c.1784C>T	c.(1783-1785)tCt>tTt	p.S595F	OSBPL3_ENST00000396429.1_Missense_Mutation_p.S559F|OSBPL3_ENST00000409069.1_Missense_Mutation_p.S528F|OSBPL3_ENST00000431825.2_Missense_Mutation_p.S528F|OSBPL3_ENST00000352860.1_Missense_Mutation_p.S564F|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S559F|OSBPL3_ENST00000396431.1_Missense_Mutation_p.S564F	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	595					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GTAGTAGCTAGATGCATACGC	0.428000													7	162					0	0	1	0	0
TPPP2	122664	broad.mit.edu	37	14	21499234	21499234	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:21499234G>A	ENST00000321760.6	+	3	385	c.237G>A	c.(235-237)caG>caA	p.Q79Q	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_Silent_p.Q79Q|TPPP2_ENST00000530140.2_Silent_p.Q79Q	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	79						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AACTGGGCCAGAAGCGCTTCA	0.512000													19	82					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73811274	73811274	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:73811274G>A	ENST00000293218.3	+	8	1129	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	UNK_ENST00000589666.1_Missense_Mutation_p.D301N			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	301							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAAGTGCAACGACATGCAGCA	0.632000													7	308					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77303764	77303764	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:77303764G>A	ENST00000388914.3	-	7	1065	c.913C>T	c.(913-915)Caa>Taa	p.Q305*	CCDC158_ENST00000434846.2_Splice_Site_p.Q305*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	305										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACCACATACTGAATGATTTCC	0.323000													15	72					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34537962	34537962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:34537962G>A	ENST00000354181.3	-	14	2248	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.Q577*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.Q586*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.Q398*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.Q398*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.Q527*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.Q586*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.Q535*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.Q571*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.Q527*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	586					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGAGGCTCTGAAGTCCAGCC	0.473000													8	46					0	0	1	0	0
SEC22C	9117	broad.mit.edu	37	3	42610425	42610425	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:42610425C>G	ENST00000273156.7	-	2	323	c.114G>C	c.(112-114)aaG>aaC	p.K38N	SEC22C_ENST00000536332.1_5'UTR|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000264454.3_Missense_Mutation_p.K38N|SEC22C_ENST00000423701.2_Missense_Mutation_p.K38N|SEC22C_ENST00000417572.1_Missense_Mutation_p.K38N	NM_004206.3|NM_032970.3	NP_004197.1|NP_116752.1	Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	38	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		AGGCTAAACTCTTGAGCCGTC	0.458000													5	47					0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760866	133760866	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:133760866C>G	ENST00000318560.5	+	11	3570	c.3189C>G	c.(3187-3189)ctC>ctG	p.L1063L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1063	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCAAAAACCTCTACACGTTCT	0.572000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								15	84					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060360	144060360	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:144060360G>C	ENST00000056217.5	+	2	772	c.598G>C	c.(598-600)Gaa>Caa	p.E200Q		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	200					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGAAGGCTCTGAAAGTGGGAC	0.522000													10	338					0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35974281	35974281	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:35974281G>A	ENST00000297866.5	+	8	1444	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	460										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATTGATCCTGAAAAGGGCAA	0.373000													37	16					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60991273	60991273	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:60991273C>T	ENST00000252998.1	-	6	489	c.333G>A	c.(331-333)ctG>ctA	p.L111L		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TCTCTTCCTTCAGCCCGTTCA	0.627000													9	18					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85553785	85553785	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:85553785C>G	ENST00000377386.3	-	2	1532	c.1070G>C	c.(1069-1071)gGg>gCg	p.G357A	TGOLN2_ENST00000409015.1_Missense_Mutation_p.G357A|TGOLN2_ENST00000398263.2_Missense_Mutation_p.G299A|TGOLN2_ENST00000409232.3_Missense_Mutation_p.G357A|TGOLN2_ENST00000282120.2_Missense_Mutation_p.G201A|TGOLN2_ENST00000444342.2_Missense_Mutation_p.G357A			O43493	TGON2_HUMAN	trans-golgi network protein 2	357						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CGAAAGTGTCCCTTCACGGTT	0.527000													20	93					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47382156	47382156	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:47382156G>C	ENST00000232766.5	+	8	1236	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	KLHL18_ENST00000455924.2_Missense_Mutation_p.E294Q	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	406										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CTACTCACCTGAGACGGACAA	0.488000													7	119					0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107237644	107237644	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:107237644A>G	ENST00000392837.4	+	6	1231	c.1080A>G	c.(1078-1080)agA>agG	p.R360R	RIC8B_ENST00000392839.2_Silent_p.R360R|RIC8B_ENST00000355478.2_Silent_p.R320R|RIC8B_ENST00000549643.1_Intron			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	360					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GCAGCTATAGAGAGGGTCTAA	0.353000													5	50					0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505189	151505189	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:151505189G>C	ENST00000317605.4	+	1	2113	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	336					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		CGGCCCTGGAGAGCGCTGCCA	0.587000													24	23					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20043946	20043946	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:20043946C>G	ENST00000379651.3	-	8	1027	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	MAP7D2_ENST00000543767.1_Missense_Mutation_p.E222Q|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000379643.5_Missense_Mutation_p.E378Q|MAP7D2_ENST00000443379.3_Missense_Mutation_p.E292Q|MAP7D2_ENST00000452324.3_Missense_Mutation_p.E285Q	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	337										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TTGCTCTTCTCTTTCTCCGCT	0.552000													19	263					0	0	1	0	0
POPDC2	64091	broad.mit.edu	37	3	119378786	119378786	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:119378786G>C	ENST00000493094.1	-	1	944	c.485C>G	c.(484-486)tCt>tGt	p.S162C	POPDC2_ENST00000538678.1_Missense_Mutation_p.S162C|POPDC2_ENST00000264231.3_Missense_Mutation_p.S162C|POPDC2_ENST00000468801.1_Missense_Mutation_p.S162C|POPDC2_ENST00000474523.1_5'UTR			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	162						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		TTACCGGCCAGAGAGCAGCAG	0.517000													42	71					0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24998057	24998057	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:24998057G>C	ENST00000323848.9	+	16	2896	c.2581G>C	c.(2581-2583)Gag>Cag	p.E861Q	SRRM1_ENST00000374389.4_Missense_Mutation_p.E870Q|SRRM1_ENST00000447431.2_Missense_Mutation_p.E873Q|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	861	Ala-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		AGCACAGGAAGAGCCAGTGGC	0.488000													7	40					0	0	1	0	0
TCHP	84260	broad.mit.edu	37	12	110346727	110346727	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:110346727G>T	ENST00000312777.5	+	8	1078	c.864G>T	c.(862-864)caG>caT	p.Q288H	TCHP_ENST00000405876.4_Missense_Mutation_p.Q288H	NM_032300.4	NP_115676.1	Q9BT92	TCHP_HUMAN	trichoplein, keratin filament binding	288	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GCACACAGCAGATCCAAGAGG	0.438000													5	29					0.00307968	0.00315961	1	1	0
CARD6	84674	broad.mit.edu	37	5	40853214	40853214	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:40853214C>G	ENST00000254691.5	+	3	1979	c.1780C>G	c.(1780-1782)Caa>Gaa	p.Q594E	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	594					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						TGAAGAGGCTCAAATTTTTCA	0.478000													24	141					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276705	152276705	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152276705C>G	ENST00000368799.1	-	3	10692	c.10657G>C	c.(10657-10659)Gag>Cag	p.E3553Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3553	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCACCTCTCAGAGTCTTCT	0.582000									Ichthyosis				41	425					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838291	155838291	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:155838291G>T	ENST00000368324.4	+	2	823	c.570G>T	c.(568-570)caG>caT	p.Q190H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	190	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			TGGATGACCAGACCCAGGGAT	0.547000													9	193					0.000673444	0.000697782	1	1	0
UTRN	7402	broad.mit.edu	37	6	144780043	144780043	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:144780043G>C	ENST00000367545.3	+	19	2422	c.2422G>C	c.(2422-2424)Gat>Cat	p.D808H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	808	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAAGCAGCTTGATGAGCTTGA	0.403000													4	36					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45176158	45176158	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:45176158G>C	ENST00000358777.4	+	2	826	c.346G>C	c.(346-348)Gac>Cac	p.D116H	CEACAM19_ENST00000403660.3_Missense_Mutation_p.D116H|CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	116						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				CCAGCCTACAGACAGTGGCAC	0.567000													9	74					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163144771	163144771	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:163144771C>T	ENST00000263642.2	-	5	1364	c.969G>A	c.(967-969)aaG>aaA	p.K323K		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	323	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGATGATATTCTTCCCTTCCA	0.498000													4	62					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151843770	151843770	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:151843770C>T	ENST00000355193.2	-	54	14334	c.14116G>A	c.(14116-14118)Gaa>Aaa	p.E4706K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E4649K					lysine (K)-specific methyltransferase 2C																		TGGAGCATTTCAGACTTTTTT	0.433000											OREG0018460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45812721	45812721	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:45812721G>C	ENST00000372086.3	-	8	1122	c.722C>G	c.(721-723)tCt>tGt	p.S241C	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000341771.6_Missense_Mutation_p.S241C|TESK2_ENST00000538496.1_Missense_Mutation_p.S158C|TESK2_ENST00000372084.1_Missense_Mutation_p.S241C	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	241	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S225C(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					GATACCATAAGAGAACACATC	0.587000													8	154					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52561971	52561971	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:52561971G>C	ENST00000261839.7	-	8	1080	c.919C>G	c.(919-921)Caa>Gaa	p.Q307E	MYO5C_ENST00000443683.2_Missense_Mutation_p.Q250E|MYO5C_ENST00000541028.1_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	307	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AAGGTCTTTTGAGTCTCTACC	0.398000													9	82					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004037	71004037	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:71004037C>A	ENST00000357250.6	-	5	687	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	COL9A1_ENST00000370496.3_Missense_Mutation_p.D177Y	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	177	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACTGGGAATCAAACAAGGAG	0.413000													44	53					6.33695e-27	7.16339e-27	1	1	0
PHF5A	84844	broad.mit.edu	37	22	41864634	41864634	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:41864634C>G	ENST00000216252.3	-	1	95	c.24G>C	c.(22-24)ttG>ttC	p.L8F		NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	8					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						GGCAAAAGATCAAATCAGGAT	0.587000													4	53					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012688	29012688	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:29012688C>G	ENST00000377175.1	-	1	329	c.265G>C	c.(265-267)Gat>Cat	p.D89H		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						ATGGTCTTATCAGGTCCCCAC	0.433000													6	55					0	0	1	0	0
UTP6	55813	broad.mit.edu	37	17	30207601	30207601	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:30207601G>C	ENST00000261708.4	-	11	1095	c.958C>G	c.(958-960)Ctg>Gtg	p.L320V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	320					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CCTGTTGGCAGAGTCTTCACT	0.473000													10	135					0	0	1	0	0
DIABLO	56616	broad.mit.edu	37	12	122710533	122710533	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:122710533C>T	ENST00000443649.3	-	2	846	c.29G>A	c.(28-30)cGc>cAc	p.R10H	DIABLO_ENST00000267169.6_5'UTR|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000464942.2_5'UTR|DIABLO_ENST00000413918.1_Missense_Mutation_p.R10H|DIABLO_ENST00000353548.6_Missense_Mutation_p.R10H	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	10					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		AGTTACGCTGCGCGACAGCCA	0.697000													4	8					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101726966	101726966	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:101726966C>G	ENST00000251127.6	-	36	4083	c.4002G>C	c.(4000-4002)aaG>aaC	p.K1334N		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1334						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAAGAAGCTCTTGTACATGC	0.463000													11	98					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97596740	97596740	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:97596740G>C	ENST00000182096.4	+	1	922	c.858G>C	c.(856-858)aaG>aaC	p.K286N		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CTTCTTTAAAGAGTGCTTATC	0.403000													10	37					0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50141409	50141409	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:50141409C>A	ENST00000378302.2	-	3	267	c.7G>T	c.(7-9)Gat>Tat	p.D3Y	RCBTB1_ENST00000546015.1_Missense_Mutation_p.D3Y|RCBTB1_ENST00000258646.3_Missense_Mutation_p.D3Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	3					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		TTTCCGACATCCACCATGACT	0.468000													4	39					0.00116845	0.00120541	1	1	0
UTP3	57050	broad.mit.edu	37	4	71555586	71555586	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:71555586G>A	ENST00000254803.2	+	1	1391	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	398					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			AAATAGCACTGAAGAACAGGC	0.338000													6	59					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7514281	7514281	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:7514281C>G	ENST00000399429.3	-	15	1393	c.1253G>C	c.(1252-1254)gGa>gCa	p.G418A		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	418					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GCCAGTTGGTCCTTCAGAACC	0.383000													23	60					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90429872	90429872	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:90429872C>G	ENST00000335725.4	+	3	664	c.414C>G	c.(412-414)ctC>ctG	p.L138L	TDP1_ENST00000555880.1_Silent_p.L138L|TDP1_ENST00000393452.3_Silent_p.L138L|TDP1_ENST00000357382.3_5'UTR|TDP1_ENST00000555565.1_Intron|TDP1_ENST00000393454.2_Silent_p.L138L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	138					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GCCACAGGCTCAAAGAGGAGG	0.512000								Repair of DNA-protein crosslinks					7	43					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367544	367544	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:367544C>G	ENST00000240499.7	+	4	1467	c.1318C>G	c.(1318-1320)Caa>Gaa	p.Q440E	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	440					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						GCTCCTGAGTCAACATAAGAA	0.338000													14	101					0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637746	45637746	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:45637746G>C	ENST00000273317.4	+	1	1396	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	LIMD1_ENST00000440097.1_Missense_Mutation_p.E459Q|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	459					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		TCTGGAGCGAGAGATGGATGC	0.577000													6	14					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87757962	87757962	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:87757962G>C	ENST00000398204.4	+	9	1047	c.724G>C	c.(724-726)Gaa>Caa	p.E242Q	ADAM22_ENST00000439864.1_Missense_Mutation_p.E242Q|ADAM22_ENST00000315984.7_Missense_Mutation_p.E242Q|ADAM22_ENST00000398201.4_Missense_Mutation_p.E242Q|ADAM22_ENST00000265727.7_Missense_Mutation_p.E242Q|ADAM22_ENST00000398209.3_Missense_Mutation_p.E242Q	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	242	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAAATACATTGAACTGATGAT	0.398000													11	81					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20996932	20996932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:20996932C>A	ENST00000261383.3	-	48	7131	c.7132G>T	c.(7132-7134)Gag>Tag	p.E2378*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2378					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E2378Q(4)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAGTGATCTCATCGTAGATT	0.443000													18	81					9.16793e-09	1.00164e-08	1	1	0
INTS1	26173	broad.mit.edu	37	7	1517480	1517480	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:1517480G>C	ENST00000389470.4	-	35	5319	c.5320C>G	c.(5320-5322)Cca>Gca	p.P1774A	INTS1_ENST00000404767.3_Missense_Mutation_p.P1575A			Q8N201	INT1_HUMAN	integrator complex subunit 1	1575					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TTACAGGCTGGAAACGGGGAG	0.667000													10	74					0	0	1	0	0
PIGY	84992	broad.mit.edu	37	4	89442803	89442803	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:89442803G>C	ENST00000527353.1	-	1	137	c.138C>G	c.(136-138)ctC>ctG	p.L46L	HERC3_ENST00000601319.1_3'UTR|PYURF_ENST00000273968.4_3'UTR			Q3MUY2	PIGY_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Y	46					GPI anchor biosynthetic process	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane|plasma membrane							Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TAATAGGCAAGAGCAGGCTGT	0.453000													65	19					0	0	1	0	0
MEF2A	4205	broad.mit.edu	37	15	100215614	100215614	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:100215614G>C	ENST00000354410.5	+	7	1256	c.627G>C	c.(625-627)ttG>ttC	p.L209F	MEF2A_ENST00000557942.1_Missense_Mutation_p.L207F|MEF2A_ENST00000453228.2_Missense_Mutation_p.L207F|MEF2A_ENST00000557785.1_Missense_Mutation_p.L207F|MEF2A_ENST00000449277.2_Missense_Mutation_p.L139F|MEF2A_ENST00000558812.1_Missense_Mutation_p.L139F|MEF2A_ENST00000338042.6_Missense_Mutation_p.L207F	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	209					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GTGGGATGTTGAGCACTACAG	0.428000													5	48					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40685710	40685710	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:40685710G>C	ENST00000249776.8	+	9	978	c.863G>C	c.(862-864)cGa>cCa	p.R288P	KNSTRN_ENST00000448395.2_3'UTR|KNSTRN_ENST00000416151.2_3'UTR|KNSTRN_ENST00000608100.1_Missense_Mutation_p.R210P	NM_033286.3	NP_150628.3			kinetochore-localized astrin/SPAG5 binding protein																		GAAAGAGTCCGATTCCTAGAA	0.373000													3	51					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64876673	64876673	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:64876673G>C	ENST00000533854.1	+	4	520		c.e4-1		CACNG5_ENST00000169565.3_Splice_Site|CACNG5_ENST00000307139.3_Splice_Site			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CCGTTAATTAGAGATGATCCG	0.527000													9	132					0	0	1	0	0
VAV3	10451	broad.mit.edu	37	1	108319912	108319912	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:108319912G>C	ENST00000370056.4	-	4	661	c.387C>G	c.(385-387)ttC>ttG	p.F129L	VAV3_ENST00000371846.4_Missense_Mutation_p.F64L|VAV3_ENST00000527011.1_Missense_Mutation_p.F129L|VAV3_ENST00000343258.4_5'UTR	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	129					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTTCTGTTGGGAAGGGCCTAG	0.373000													5	26					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430868	37430868	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:37430868G>A	ENST00000374660.1	+	7	974	c.875G>A	c.(874-876)gGa>gAa	p.G292E	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G292E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G292E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	348						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCGACATCTGGAAAGTTCGAA	0.453000													27	67					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49757948	49757948	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49757948G>C	ENST00000327697.6	+	36	3649	c.3505G>C	c.(3505-3507)Gag>Cag	p.E1169Q	GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000535833.1_5'UTR|RNF123_ENST00000433785.1_Missense_Mutation_p.E281Q|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	1169						cytoplasm	ligase activity|protein binding|zinc ion binding	p.E1169Q(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		ACCTAGGAGAGAGCAAGCCAC	0.577000													7	63					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70442602	70442602	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:70442602G>T	ENST00000373644.4	+	10	5133	c.4924G>T	c.(4924-4926)Gaa>Taa	p.E1642*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1642					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGTGGAATATGAAAATGTTGC	0.453000													6	37					0.248553	0.24903	1	1	0
RALGAPA2	57186	broad.mit.edu	37	20	20610075	20610075	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:20610075C>T	ENST00000202677.7	-	10	1172	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.E389K(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTACCATTTCATACACCATT	0.473000													8	38					0	0	1	0	0
LOC101929950	101929950	broad.mit.edu	37	17	36358880	36358880	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:36358880G>C	ENST00000312412.4	-	6	810	c.811C>G	c.(811-813)Cct>Gct	p.P271A	RP11-1407O15.2_ENST00000544906.1_Missense_Mutation_p.P116A																kidney(1)|lung(3)	4						TTGCCAACAGGAGTGTAAACA	0.403000													44	402					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555266	10555266	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:10555266G>C	ENST00000304519.5	+	3	428	c.399G>C	c.(397-399)caG>caC	p.Q133H	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		GCCAGGACCAGCAGGTCGACC	0.617000													31	174					0	0	1	0	0
ACP1	52	broad.mit.edu	37	2	264987	264987	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:264987C>A	ENST00000272067.6	+	1	119	c.23C>A	c.(22-24)tCc>tAc	p.S8Y	ACP1_ENST00000439645.2_Missense_Mutation_p.S8Y|ACP1_ENST00000407983.3_Missense_Mutation_p.S8Y|ACP1_ENST00000405233.1_Missense_Mutation_p.S8Y|ACP1_ENST00000272065.5_Missense_Mutation_p.S8Y	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	8						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GCTACCAAGTCCGTGCTGTTT	0.652000													11	199					2.68362e-12	2.98193e-12	1	1	0
TRAJ1	28754	broad.mit.edu	37	14	23014019	23014019	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:23014019G>C	ENST00000390536.2	+	0	39																											TTTGGCAAAGGAACCAGAGTT	0.498000													7	33					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128747412	128747412	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:128747412G>C	ENST00000357702.5	-	13	1715	c.1584C>G	c.(1582-1584)atC>atG	p.I528M	SAP130_ENST00000259235.3_Missense_Mutation_p.I528M|SAP130_ENST00000259234.6_Missense_Mutation_p.I502M	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	528					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTGAGCTGTGATGGCAGAGT	0.463000													4	23					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49067976	49067976	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49067976C>G	ENST00000395443.2	-	10	2712	c.2240G>C	c.(2239-2241)aGa>aCa	p.R747T	QRICH1_ENST00000357496.2_Missense_Mutation_p.R747T|QRICH1_ENST00000424300.1_Missense_Mutation_p.R747T	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	747										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATCTGCTCTCTGCTGATAGG	0.547000													5	73					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53704070	53704070	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:53704070G>C	ENST00000371470.3	-	1	212	c.51C>G	c.(49-51)ttC>ttG	p.F17L	MAGOH_ENST00000371466.4_Missense_Mutation_p.F17L|MAGOH_ENST00000462941.1_5'UTR	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	17					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						ACTCGTGGCCGAACTTGCCCT	0.622000													4	172					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	51					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7927155	7927155	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7927155G>C	ENST00000270530.4	+	15	1955	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	EVI5L_ENST00000538904.2_Missense_Mutation_p.E598Q	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	587						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GGTGGAACTTGAGACGCAGGT	0.726000													3	12					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53777147	53777147	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53777147C>T	ENST00000426431.2	+	3	1455	c.1395C>T	c.(1393-1395)ctC>ctT	p.L465L	SP1_ENST00000327443.4_Silent_p.L472L	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	472	Transactivation domain B (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TGCAGAACCTCCAAGTTCAGA	0.547000													10	133					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100511194	100511194	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:100511194C>G	ENST00000376355.3	+	3	360	c.329C>G	c.(328-330)tCa>tGa	p.S110*	CLYBL_ENST00000339105.4_Nonsense_Mutation_p.S110*|CLYBL_ENST00000376360.1_Nonsense_Mutation_p.S110*|CLYBL_ENST00000444838.2_Nonsense_Mutation_p.S110*|CLYBL_ENST00000376354.1_Nonsense_Mutation_p.S110*	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	110					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGAGTCAACTCAGTTTCCAGT	0.448000													4	62					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs149439944	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662000													8	108					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220808	146220808	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:146220808G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TGATACCAGTGAGTCAACAAA	0.443000													19	17					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25257929	25257929	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:25257929G>C	ENST00000216962.4	+	7	932	c.822G>C	c.(820-822)gaG>gaC	p.E274D		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	274					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ACTTGGCTGAGAACATCTCCA	0.562000													6	78					0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102703810	102703810	+	Silent	SNP	G	G	A	rs146562009		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:102703810G>A	ENST00000238961.4	+	12	3224	c.2682G>A	c.(2680-2682)ggG>ggA	p.G894G	FAM178A_ENST00000481654.1_3'UTR|FAM178A_ENST00000370269.3_Silent_p.G894G	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		CATCAAGGGGGAAAGAAAGTG	0.333000													3	13					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304594	3304594	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3304594C>T	ENST00000219596.1	-	2	513	c.474G>A	c.(472-474)ctG>ctA	p.L158L	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	158					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TGCGTTTGCTCAGGGGCTTCC	0.756000													3	18					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595158	31595158	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:31595158G>C	ENST00000379416.3	-	17	1840	c.1792C>G	c.(1792-1794)Cct>Gct	p.P598A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	598					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCGTAGCGAGGAATGTCGTCA	0.642000													69	240					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161494743	161494743	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:161494743G>C	ENST00000309758.4	+	1	708	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	99					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GGTGGTGAGCGAGGGCGGCAA	0.627000													14	117					0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124735528	124735528	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:124735528C>G	ENST00000397801.1	+	1	247	c.55C>G	c.(55-57)Ctg>Gtg	p.L19V		NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	19					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGCGGACTCTCTGGCCGGGGA	0.657000													11	42					0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109553866	109553866	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:109553866G>T	ENST00000357672.3	-	4	1093	c.718C>A	c.(718-720)Cat>Aat	p.H240N	WDR47_ENST00000400794.3_Missense_Mutation_p.H275N|WDR47_ENST00000369965.4_Missense_Mutation_p.H268N|WDR47_ENST00000369962.3_Missense_Mutation_p.H268N|WDR47_ENST00000361054.3_Missense_Mutation_p.H240N			O94967	WDR47_HUMAN	WD repeat domain 47	268										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TTGTCAACATGAATATTAAGC	0.383000													32	159					3.1745e-13	3.53943e-13	1	1	0
PET112	5188	broad.mit.edu	37	4	152680008	152680008	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:152680008G>C	ENST00000263985.6	-	2	283	c.243C>G	c.(241-243)ctC>ctG	p.L81L	PET112_ENST00000512306.1_Silent_p.L81L|PET112_ENST00000508611.1_Silent_p.L81L|PET112_ENST00000515812.1_Silent_p.L81L	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	81						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATCCAGAGAAGAGTTTAGAGT	0.383000													7	85					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139905868	139905868	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:139905868G>T	ENST00000297183.6	+	26	4904	c.4780G>T	c.(4780-4782)Gat>Tat	p.D1594Y	ANKHD1_ENST00000544120.1_5'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D1594Y|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D1594Y	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTGATTCAGATAACTTGGA	0.403000													21	153					2.21704e-12	2.46558e-12	1	1	0
APOB	338	broad.mit.edu	37	2	21228078	21228078	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:21228078C>G	ENST00000233242.1	-	26	11789	c.11662G>C	c.(11662-11664)Gag>Cag	p.E3888Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3888					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGTCTACCTCAAAGCGTGCA	0.463000													8	110					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134670652	134670652	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:134670652C>G	ENST00000398015.3	+	3	933	c.563C>G	c.(562-564)tCt>tGt	p.S188C	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	188	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCTCTTCTTTCTGTCCGTGTC	0.453000													15	203					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541310	12541310	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:12541310G>A	ENST00000301547.5	-	4	1873	c.1676C>T	c.(1675-1677)cCg>cTg	p.P559L	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	559					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ACATTCATACGGCTTCTCTCC	0.393000													4	77					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6421514	6421514	+	Missense_Mutation	SNP	G	G	A	rs150313249	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:6421514G>A	ENST00000396988.3	+	2	352	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R41Q|PLEKHG6_ENST00000538208.1_3'UTR|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R41Q	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	41					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CTCTATCCCCGAGGATACCCT	0.622000													31	66					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952563	52952563	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:52952563C>G	ENST00000349258.4	-	4	1927	c.1383G>C	c.(1381-1383)gaG>gaC	p.E461D	THSD1_ENST00000258613.4_Missense_Mutation_p.E514D|THSD1_ENST00000544466.1_Missense_Mutation_p.E135D	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	514						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACTGGAAGCTCTCGCTGCCAG	0.602000													33	66					0	0	1	0	0
SET	6418	broad.mit.edu	37	9	131456007	131456007	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:131456007G>T	ENST00000322030.8	+	6	940	c.583G>T	c.(583-585)Gac>Tac	p.D195Y	SET_ENST00000372692.4_Missense_Mutation_p.D208Y|SET_ENST00000409104.3_Missense_Mutation_p.D186Y|SET_ENST00000372688.4_Missense_Mutation_p.D184Y|SET_ENST00000477806.1_3'UTR	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene	208					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		CTGGTTTACTGACCATTCTGA	0.423000			T	NUP214	AML								8	70					1.12685e-05	1.20047e-05	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123598868	123598868	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:123598868C>T	ENST00000336139.4	-	6	1167	c.805G>A	c.(805-807)Gaa>Aaa	p.E269K	ZNF202_ENST00000529691.1_Missense_Mutation_p.E269K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E269K			O95125	ZN202_HUMAN	zinc finger protein 202	269	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCACAGTCTTCTTCCAAGACA	0.438000													4	43					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85554472	85554472	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:85554472G>C	ENST00000393217.2	+	24	4863	c.4802G>C	c.(4801-4803)aGa>aCa	p.R1601T	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1601										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GTACAGCCCAGAAGAGATGGT	0.299000													8	42					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186257163	186257163	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:186257163G>C	ENST00000392499.2	-	3	584	c.245C>G	c.(244-246)tCc>tGc	p.S82C	CRYGS_ENST00000307944.5_Missense_Mutation_p.S82C	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	82	Beta/gamma crystallin 'Greek key' 2.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		AGCTCTGCAGGAGCTGAGGCG	0.517000													7	52					0	0	1	0	0
C19orf12	83636	broad.mit.edu	37	19	30199297	30199297	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:30199297G>A	ENST00000323670.9	-	2	163	c.24C>T	c.(22-24)atC>atT	p.I8I	C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392278.2_Silent_p.I19I|C19orf12_ENST00000592153.1_Silent_p.I8I	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	8						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GCAGCTTCATGATGTCCTCCA	0.552000													6	116					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183829484	183829484	+	Missense_Mutation	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:183829484A>T	ENST00000361354.4	-	17	2053	c.1681T>A	c.(1681-1683)Tct>Act	p.S561T	NCKAP1_ENST00000360982.2_Missense_Mutation_p.S567T	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CTTGATTGAGAGGGTAACTCC	0.323000													6	21					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33237908	33237908	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:33237908G>T	ENST00000401073.2	+	6	3198	c.3128G>T	c.(3127-3129)cGa>cTa	p.R1043L	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R984L|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R995L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	984										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGTTACCCTCGAGCTGAGCCC	0.662000													8	78					5.18039e-06	5.54602e-06	1	1	0
REV3L	5980	broad.mit.edu	37	6	111621351	111621351	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:111621351C>G	ENST00000435970.1	-	34	9843	c.9027G>C	c.(9025-9027)aaG>aaC	p.K3009N	REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368805.1_Missense_Mutation_p.K3087N|REV3L_ENST00000358835.3_Missense_Mutation_p.K3087N|REV3L_ENST00000368802.3_Missense_Mutation_p.K3087N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	3087					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGTACAGTTCTTGCATATCT	0.358000								DNA polymerases (catalytic subunits)					17	22					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197791271	197791271	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:197791271C>A	ENST00000354764.4	-	1	184	c.70G>T	c.(70-72)Ggg>Tgg	p.G24W	PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Missense_Mutation_p.G24W|PGAP1_ENST00000485830.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TCCCACAGCCCCAGGGTTGCC	0.547000													10	243					0.000673444	0.000697782	1	1	0
PSME4	23198	broad.mit.edu	37	2	54148029	54148029	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:54148029G>T	ENST00000404125.1	-	18	2314	c.2259C>A	c.(2257-2259)atC>atA	p.I753I	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	753					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGCTTGCCTTGATAGGAAAGT	0.358000													12	113					5.16669e-11	5.70698e-11	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102155037	102155037	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:102155037G>A	ENST00000299314.7	-	15	3265	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1001			L -> P (in MLII).		cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTGCACTCATGAGATAATAAA	0.398000													8	84					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25351735	25351735	+	RNA	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:25351735C>A	ENST00000546682.1	+	0	3911				SNHG14_ENST00000553108.1_RNA|SNORD116-29_ENST00000384516.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						CAAGACACTTCTGTGAGCTGA	0.468000													3	29					0.115264	0.116154	1	1	0
ARSK	153642	broad.mit.edu	37	5	94922419	94922419	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:94922419G>C	ENST00000380009.4	+	5	1058	c.853G>C	c.(853-855)Gag>Cag	p.E285Q		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	285						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TATGTGTGCTGAGACAGATGC	0.308000													3	46					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146271550	146271550	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:146271550G>C	ENST00000367503.3	-	4	1230	c.832C>G	c.(832-834)Cac>Gac	p.H278D	SHPRH_ENST00000438092.2_Missense_Mutation_p.H278D|SHPRH_ENST00000367505.2_Missense_Mutation_p.H278D|SHPRH_ENST00000275233.7_Missense_Mutation_p.H278D	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	278					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCACAAAGTGATACAGCTCG	0.468000													12	64					0	0	1	0	0
DHDH	27294	broad.mit.edu	37	19	49437014	49437014	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:49437014C>T	ENST00000221403.2	+	1	76	c.36C>T	c.(34-36)ctC>ctT	p.L12L	DHDH_ENST00000522614.1_Silent_p.L12L|DHDH_ENST00000523250.1_Silent_p.L12L	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)	12					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CTGTCGGCCTCATCTCCAGCG	0.682000													8	51					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986592	21986592	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:21986592G>A	ENST00000381418.4	-	2	1572	c.92C>T	c.(91-93)cCg>cTg	p.P31L	HR_ENST00000312841.8_Missense_Mutation_p.P31L	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	31							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ATCTCGAGGCGGGCTGCCGGG	0.662000													75	12					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30409506	30409506	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:30409506C>T	ENST00000375994.2	+	3	1011	c.738C>T	c.(736-738)ctC>ctT	p.L246L	MYLK2_ENST00000375985.4_Silent_p.L246L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	246					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CCCTCTGTCTCACAGCCAGGG	0.657000													14	217					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554546	85554546	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:85554546C>G	ENST00000377386.3	-	2	771	c.309G>C	c.(307-309)aaG>aaC	p.K103N	TGOLN2_ENST00000409015.1_Missense_Mutation_p.K103N|TGOLN2_ENST00000398263.2_Missense_Mutation_p.K103N|TGOLN2_ENST00000409232.3_Missense_Mutation_p.K103N|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000444342.2_Missense_Mutation_p.K103N			O43493	TGON2_HUMAN	trans-golgi network protein 2	103	14 X 14 AA tandem repeats.		K -> Q (in dbSNP:rs1044964).			integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTTTTTGGGTCTTTGCCTCCG	0.577000													148	711					0	0	1	0	0
RASSF2	9770	broad.mit.edu	37	20	4771140	4771140	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:4771140C>G	ENST00000379400.3	-	7	689	c.494G>C	c.(493-495)aGa>aCa	p.R165T	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R165T	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	165					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCGGTGGCGTCTGATTCGCCG	0.612000													6	48					0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2570812	2570812	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:2570812G>C	ENST00000302956.4	+	2	220	c.126G>C	c.(124-126)gaG>gaC	p.E42D	AMDHD2_ENST00000413459.3_Missense_Mutation_p.E42D|AMDHD2_ENST00000293971.6_Missense_Mutation_p.E42D|ATP6C_ENST00000569317.1_Intron			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	42					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TGGACCCAGAGAAGCTGTTCT	0.701000													11	39					0	0	1	0	0
QSOX1	5768	broad.mit.edu	37	1	180163433	180163433	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:180163433G>C	ENST00000367602.3	+	11	1448	c.1374G>C	c.(1372-1374)caG>caC	p.Q458H	QSOX1_ENST00000367600.5_Missense_Mutation_p.Q458H			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	458	ERV/ALR sulfhydryl oxidase.				cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACTTCGAGCAGATGGCTGCTG	0.627000													20	77					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915419	39915419	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:39915419G>C	ENST00000425673.1	+	17	3884	c.3559G>C	c.(3559-3561)Gag>Cag	p.E1187Q	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.E1157Q|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.E1216Q|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1216					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCTTTACCTGAGAGAGGAGG	0.537000													17	425					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25277052	25277052	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:25277052C>T	ENST00000216962.4	+	20	2536	c.2426C>T	c.(2425-2427)tCg>tTg	p.S809L	ABHD12_ENST00000376542.3_Intron|PYGB_ENST00000471359.1_3'UTR	NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	809					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ATCGCCTGCTCGGGCAAGTTC	0.607000													6	107					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48784717	48784717	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:48784717G>A	ENST00000316623.5	-	24	3250	c.2795C>T	c.(2794-2796)tCa>tTa	p.S932L		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	932	EGF-like 14; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACACTTGAATGACCCCCTAGT	0.338000													8	25					0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182554672	182554672	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:182554672C>G	ENST00000367559.3	-	2	1523	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q	RNASEL_ENST00000539397.1_Missense_Mutation_p.E424Q|RNASEL_ENST00000444138.1_Missense_Mutation_p.E424Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	424	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						CTGTGGCTCTCACTCCCATAG	0.537000													9	100					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36241593	36241593	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:36241593G>C	ENST00000400445.3	+	56	9018	c.8484G>C	c.(8482-8484)ttG>ttC	p.L2828F	NBEA_ENST00000379922.3_Missense_Mutation_p.L406F|NBEA_ENST00000310336.4_Missense_Mutation_p.L2828F|NBEA_ENST00000537702.1_Missense_Mutation_p.L621F|NBEA_ENST00000540320.1_Missense_Mutation_p.L2828F|NBEA_ENST00000379939.2_Missense_Mutation_p.L2825F	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2828						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCCCACGCTTGATATCTGTCT	0.473000													9	61					0	0	1	0	0
CARF	79800	broad.mit.edu	37	2	203848337	203848337	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:203848337C>G	ENST00000402905.3	+	16	2489	c.2168C>G	c.(2167-2169)tCt>tGt	p.S723C	CARF_ENST00000438828.2_Missense_Mutation_p.S723C|WDR12_ENST00000477723.1_Intron|CARF_ENST00000414439.1_Missense_Mutation_p.S621C|CARF_ENST00000545262.1_Missense_Mutation_p.S647C|CARF_ENST00000545253.1_Missense_Mutation_p.S635C|CARF_ENST00000320443.8_Missense_Mutation_p.S723C|CARF_ENST00000428585.1_Missense_Mutation_p.S647C	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor									p.S723C(1)									AAGAAATTATCTGCTACATAA	0.353000													5	41					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75663388	75663388	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:75663388C>G	ENST00000319410.5	-	13	1681	c.1560G>C	c.(1558-1560)aaG>aaC	p.K520N	KARS_ENST00000302445.3_Missense_Mutation_p.K492N|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	492					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	ATATCTCTTTCTTCATGACAA	0.502000													10	141					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160283854	160283854	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:160283854G>C	ENST00000241704.7	-	9	997	c.768C>G	c.(766-768)gtC>gtG	p.V256V	COPA_ENST00000368069.3_Silent_p.V256V	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	256					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGGTGGAAGACGGCACAAG	0.468000													4	130					0	0	1	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3395040	3395040	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:3395040G>C	ENST00000378378.4	+	12	2083	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E272Q|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E272Q|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E264Q	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	560	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CATCCAGGTGGAGAAGATAGA	0.652000													9	93					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70480111	70480111	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:70480111G>C	ENST00000381280.4	+	10	1202	c.949G>C	c.(949-951)Gaa>Caa	p.E317Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.E317Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	317					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGGCTGTCCAGAAGGGAAGAA	0.448000											OREG0022771	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	58					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48073624	48073624	+	Silent	SNP	G	G	C	rs147020508		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:48073624G>C	ENST00000264316.4	-	14	1510	c.1425C>G	c.(1423-1425)gtC>gtG	p.V475V	TXK_ENST00000507351.1_Silent_p.V130V	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	475	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGCTTCCACGACTTGCAAAT	0.403000													20	131					0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236649651	236649651	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:236649651C>T	ENST00000304032.8	+	4	935	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	AGAP1_ENST00000409538.1_Silent_p.L384L|AGAP1_ENST00000336665.5_Silent_p.L119L|AGAP1_ENST00000409457.1_Silent_p.L119L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAGAGCTATCTGCTGCTGAT	0.502000													14	24					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78263541	78263541	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:78263541C>G	ENST00000582970.1	+	6	1160	c.1017C>G	c.(1015-1017)ctC>ctG	p.L339L	RNF213_ENST00000319921.4_Silent_p.L339L|RNF213_ENST00000456466.1_Silent_p.L339L|RNF213_ENST00000508628.2_Silent_p.L388L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	339										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)			CTGAAGACCTCAAGAAGCCAG	0.498000													6	61					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436147	27436147	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:27436147G>C	ENST00000295736.5	-	20	3022	c.2952C>G	c.(2950-2952)gtC>gtG	p.V984V	SLC4A7_ENST00000454389.1_Silent_p.V993V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Silent_p.V869V|SLC4A7_ENST00000440156.1_Silent_p.V980V|SLC4A7_ENST00000437179.1_Silent_p.V865V|SLC4A7_ENST00000388777.4_Silent_p.V534V|SLC4A7_ENST00000446700.1_Silent_p.V976V|SLC4A7_ENST00000445684.1_Silent_p.V980V|SLC4A7_ENST00000428386.1_Silent_p.V860V|SLC4A7_ENST00000455077.1_Silent_p.V865V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	984						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TTAAGCTGTTGACATGACTTA	0.433000													14	78					0	0	1	0	0
FAM166B	730112	broad.mit.edu	37	9	35563793	35563793	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:35563793G>C	ENST00000399742.2	-	1	103	c.33C>G	c.(31-33)ctC>ctG	p.L11L	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	11										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TCTGAGGGTTGAGCCCTGGTA	0.562000													8	40					0	0	1	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794913	18794913	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:18794913G>C	ENST00000377428.2	+	1	544	c.454G>C	c.(454-456)Gac>Cac	p.D152H	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		GGTTTTCAAAGACTGGGCTAA	0.408000													7	67					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58438534	58438534	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58438534C>A	ENST00000396147.1	-	4	1306	c.1015G>T	c.(1015-1017)Gaa>Taa	p.E339*	ZNF418_ENST00000595830.1_Nonsense_Mutation_p.E339*|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.E254*|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.E360*|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TAAGGTCTTTCTCCAGTGTGA	0.403000													26	72					2.24059e-21	2.52405e-21	1	1	0
PET112	5188	broad.mit.edu	37	4	152601029	152601029	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:152601029G>A	ENST00000263985.6	-	11	1386	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F	PET112_ENST00000507592.1_5'UTR|PET112_ENST00000515812.1_Missense_Mutation_p.S408F	NM_004564.2	NP_004555.1	O75879	GATB_HUMAN	PET112 homolog (yeast)	449						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	23					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCGAGTGCAGAGGGTGTGAC	0.498000													7	111					0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2408487	2408487	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:2408487G>C	ENST00000332578.3	+	7	874	c.874G>C	c.(874-876)Gac>Cac	p.D292H		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	292	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGACTTTGACGTGGCTGT	0.667000													38	57					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29819563	29819563	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:29819563C>G	ENST00000219782.6	+	3	1162	c.1056C>G	c.(1054-1056)ctC>ctG	p.L352L	MAZ_ENST00000568544.1_5'UTR|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000545521.1_Silent_p.L329L|MAZ_ENST00000322945.6_Silent_p.L352L|MAZ_ENST00000569978.1_5'UTR|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000568282.1_5'UTR	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	352					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CGGATCACCTCAACAGTCACG	0.572000													15	52					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21221979	21221979	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:21221979G>C	ENST00000602326.1	-	15	2448	c.1865C>G	c.(1864-1866)aCt>aGt	p.T622S	EIF4G3_ENST00000374937.3_Missense_Mutation_p.T622S|EIF4G3_ENST00000536266.1_Missense_Mutation_p.T220S|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000544689.1_Missense_Mutation_p.T159S|EIF4G3_ENST00000537738.1_Missense_Mutation_p.T69S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.T616S|EIF4G3_ENST00000264211.8_Missense_Mutation_p.T616S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.T336S	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	616	EIF4E-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TTCAGTATCAGTAGGCTTCCA	0.433000													5	70					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63851946	63851946	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:63851946G>C	ENST00000279873.7	+	10	3134	c.2724G>C	c.(2722-2724)ctG>ctC	p.L908L	ARID5B_ENST00000309334.5_Silent_p.L665L	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	908					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.L908L(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CTACAGATCTGAGCCTTCCCA	0.562000													10	82					0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166514487	166514487	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:166514487G>C	ENST00000314499.7	+	5	741	c.365G>C	c.(364-366)aGa>aCa	p.R122T	CSRNP3_ENST00000409420.1_Missense_Mutation_p.R154T|CSRNP3_ENST00000342316.4_Missense_Mutation_p.R122T	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	122					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GAGATGTTGAGAGAACACCTT	0.483000													3	25					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877931	39877931	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39877931C>A	ENST00000530275.1	+	1	1781	c.1586C>A	c.(1585-1587)tCa>tAa	p.S529*	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	529										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GATGTTACCTCAGGACCTGAA	0.393000													44	345					2.77807e-22	3.13088e-22	1	1	0
NOP14	8602	broad.mit.edu	37	4	2951722	2951722	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:2951722C>T	ENST00000416614.2	-	8	1286	c.1221G>A	c.(1219-1221)ttG>ttA	p.L407L	NOP14_ENST00000502735.1_Silent_p.L407L|NOP14_ENST00000314262.6_Silent_p.L407L|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Silent_p.L407L			P78316	NOP14_HUMAN	NOP14 nucleolar protein	407					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TGCCGCTTATCAACCCTTTCC	0.547000													87	241					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57700549	57700549	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:57700549C>G	ENST00000413566.2	-	9	1126	c.767G>C	c.(766-768)aGa>aCa	p.R256T	EXOC5_ENST00000340918.7_Missense_Mutation_p.R191T	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	256					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						TTTGTTCACTCTTTGACAGAG	0.313000													25	41					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34635334	34635334	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:34635334G>C	ENST00000342136.4	+	9	1403	c.1077G>C	c.(1075-1077)ttG>ttC	p.L359F	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.L359F			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	359					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AATCCCAGTTGATAGACCCGG	0.597000													33	89					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441886	37441886	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37441886G>A	ENST00000415168.1	+	5	2015	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	ZNF568_ENST00000333987.7_Missense_Mutation_p.E611K|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCATACTGGTGAGAAACCCTT	0.388000													5	115					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													10	208					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736042	12736042	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:12736042G>A	ENST00000380682.1	+	16	3603	c.3097G>A	c.(3097-3099)Gat>Aat	p.D1033N		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1033					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAAGCTGGCCGATGGTGAGGG	0.507000													41	126					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027352	55027352	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:55027352G>C	ENST00000371336.3	+	5	1321	c.1120G>C	c.(1120-1122)Gag>Cag	p.E374Q	CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.E374Q	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	374	Ser-rich.				cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGAGGTGTCAGAGAATTCCGC	0.512000													4	65					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26785240	26785240	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:26785240G>A	ENST00000376236.4	+	4	535	c.80G>A	c.(79-81)gGa>gAa	p.G27E	APBB1IP_ENST00000356785.4_Missense_Mutation_p.G27E	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	27					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAGAGTTTAGGAGTTGACACT	0.373000													4	49					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648657	41648657	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:41648657C>T	ENST00000313860.7	+	12	1466	c.1412C>T	c.(1411-1413)tCa>tTa	p.S471L	LIMCH1_ENST00000508501.1_Missense_Mutation_p.S471L|LIMCH1_ENST00000509277.1_Missense_Mutation_p.S305L|LIMCH1_ENST00000503057.1_Missense_Mutation_p.S856L|LIMCH1_ENST00000512632.1_Missense_Mutation_p.S471L|LIMCH1_ENST00000381753.4_Missense_Mutation_p.S305L|LIMCH1_ENST00000511496.1_Missense_Mutation_p.S312L|LIMCH1_ENST00000513024.1_Missense_Mutation_p.S300L|LIMCH1_ENST00000512946.1_Missense_Mutation_p.S471L|LIMCH1_ENST00000512820.1_Missense_Mutation_p.S459L|LIMCH1_ENST00000514096.1_Missense_Mutation_p.S312L|LIMCH1_ENST00000396595.3_Missense_Mutation_p.S317L	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	471					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AGAAGCCATTCAACAGAGCCA	0.483000													14	306					0	0	1	0	0
NELFA	7469	broad.mit.edu	37	4	1991439	1991439	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:1991439C>G	ENST00000382882.3	-	3	1690	c.573G>C	c.(571-573)caG>caC	p.Q191H	NELFA_ENST00000411638.2_Missense_Mutation_p.Q180H|NELFA_ENST00000542778.1_Missense_Mutation_p.Q45H					negative elongation factor complex member A																		ACTCACACTTCTGCAGCAGCT	0.592000													16	331					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18864349	18864349	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:18864349C>A	ENST00000338797.6	+	7	651	c.626C>A	c.(625-627)tCa>tAa	p.S209*	CRTC1_ENST00000594658.1_Nonsense_Mutation_p.S152*|CRTC1_ENST00000321949.8_Nonsense_Mutation_p.S193*|CRTC1_ENST00000601916.1_Nonsense_Mutation_p.S118*	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	193					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAGACCACATCAGAGGCAGAC	0.453000													42	228					7.05121e-23	7.95357e-23	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139907592	139907592	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:139907592G>C	ENST00000297183.6	+	28	5346	c.5222G>C	c.(5221-5223)aGa>aCa	p.R1741T	ANKHD1_ENST00000544120.1_Missense_Mutation_p.R124T|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1741T|ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1741T	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGCGAGAGAATGATCACA	0.363000													5	18					0	0	1	0	0
ATP5S	27109	broad.mit.edu	37	14	50779753	50779753	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:50779753C>G	ENST00000245448.6	+	1	707	c.15C>G	c.(13-15)gtC>gtG	p.V5V	ATP5S_ENST00000554438.1_Intron|ATP5S_ENST00000426751.2_Silent_p.V5V|ATP5S_ENST00000311459.7_Silent_p.V5V	NM_001003805.2	NP_001003805.1	Q99766	ATP5S_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)	5					ATP biosynthetic process	mitochondrial inner membrane|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	12	all_epithelial(31;0.000636)|Breast(41;0.0102)			OV - Ovarian serous cystadenocarcinoma(311;0.0685)		GCTGTGCGGTCTCTGAGCAGC	0.458000													11	45					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367188	105367188	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:105367188C>T	ENST00000297581.2	+	3	1162	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	371					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACCAAAATTCCTTCTATCTG	0.353000													5	60					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716848	101716848	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:101716848G>C	ENST00000342239.3	-	4	474	c.383C>G	c.(382-384)tCa>tGa	p.S128*	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.S128*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	128					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCGGCTCTGTGAGGAGAGGCA	0.622000													12	16					0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93646273	93646273	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:93646273C>T	ENST00000557479.1	+	1	354	c.186C>T	c.(184-186)ctC>ctT	p.L62L	CCDC18_ENST00000334652.5_5'UTR|TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCCAACGGCTCCCGCGGCGGT	0.721000													6	34					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113771882	113771882	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:113771882G>C	ENST00000375581.3	+	8	812	c.777G>C	c.(775-777)aaG>aaC	p.K259N	F7_ENST00000346342.3_Missense_Mutation_p.K237N|F7_ENST00000541084.1_Missense_Mutation_p.K190N	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	259	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	ACAAAATCAAGAACTGGAGGA	0.617000													54	128					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46726549	46726549	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:46726549G>C	ENST00000371975.4	+	7	1302	c.628G>C	c.(628-630)Gaa>Caa	p.E210Q	RAD54L_ENST00000473251.1_3'UTR|RAD54L_ENST00000442598.1_Missense_Mutation_p.E210Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	210	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GTGCAAGCCAGAAATTGACAA	0.537000								Direct reversal of damage;Homologous recombination					8	124					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37583996	37583996	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:37583996G>C	ENST00000264741.5	+	15	1865	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	ITGA9_ENST00000422441.1_Missense_Mutation_p.E537Q	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	537					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTGCTGGGAGAGACCATGGG	0.527000													12	53					0	0	1	0	0
KCTD20	222658	broad.mit.edu	37	6	36437987	36437987	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:36437987C>A	ENST00000373731.2	+	2	504	c.113C>A	c.(112-114)tCa>tAa	p.S38*	KCTD20_ENST00000544295.1_5'UTR|KCTD20_ENST00000536244.1_5'UTR|KCTD20_ENST00000449081.2_Nonsense_Mutation_p.S38*|KCTD20_ENST00000474988.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	38						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						AGCCTGGCTTCATCTGGTCCT	0.463000													9	81					1.58986e-06	1.7112e-06	1	1	0
GCKR	2646	broad.mit.edu	37	2	27746156	27746156	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27746156G>A	ENST00000264717.2	+	19	1791	c.1728G>A	c.(1726-1728)ctG>ctA	p.L576L	GCKR_ENST00000424318.2_Silent_p.L386L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	576					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TCGCCTTGCTGAGCCTCCTAT	0.607000													27	26					0	0	1	0	0
PHTF1	10745	broad.mit.edu	37	1	114247293	114247293	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:114247293G>T	ENST00000369604.1	-	14	2281	c.1798C>A	c.(1798-1800)Cta>Ata	p.L600I	PHTF1_ENST00000369598.1_Missense_Mutation_p.L555I|PHTF1_ENST00000369596.2_Missense_Mutation_p.L547I|PHTF1_ENST00000357783.2_Missense_Mutation_p.L600I|PHTF1_ENST00000393357.2_Missense_Mutation_p.L600I|PHTF1_ENST00000369600.1_Missense_Mutation_p.L547I|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	600						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCACCTTTAGATAGGAACGC	0.378000													8	41					0.00448238	0.00459149	1	1	0
KCNN3	3782	broad.mit.edu	37	1	154841659	154841659	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:154841659C>T	ENST00000271915.4	-	1	1097	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3							integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			TTGGTTTTTCCGCTTGTTGGC	0.537000													7	207					0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968855	5968855	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:5968855C>T	ENST00000329564.6	+	1	286	c.279C>T	c.(277-279)ctC>ctT	p.L93L		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTTGACCTCAGGCCCATCA	0.537000													12	178					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73565355	73565355	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:73565355C>A	ENST00000392550.3	+	14	1647	c.1530C>A	c.(1528-1530)atC>atA	p.I510I	LLGL2_ENST00000167462.5_Silent_p.I510I|LLGL2_ENST00000577200.1_Silent_p.I510I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	510					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCAGAAGATCTTCCTCTGCA	0.662000													14	173					1.05317e-09	1.15499e-09	1	1	0
NGEF	25791	broad.mit.edu	37	2	233745922	233745922	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:233745922G>T	ENST00000264051.3	-	14	2154	c.1876C>A	c.(1876-1878)Cag>Aag	p.Q626K	NGEF_ENST00000539537.1_Missense_Mutation_p.Q349K|NGEF_ENST00000373552.4_Missense_Mutation_p.Q534K	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	626	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.Q626E(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TCTGGCTGCTGAGCCACGTAT	0.667000													23	61					1.64293e-13	1.83337e-13	1	1	0
COG5	10466	broad.mit.edu	37	7	106888890	106888890	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:106888890C>G	ENST00000393603.2	-	17	2168	c.1897G>C	c.(1897-1899)Gat>Cat	p.D633H	COG5_ENST00000297135.3_Missense_Mutation_p.D633H|COG5_ENST00000347053.3_Missense_Mutation_p.D612H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	612					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTATAGCATCTCCCACAGAA	0.333000													14	83					0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138147886	138147886	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:138147886C>G	ENST00000302763.7	+	5	573	c.483C>G	c.(481-483)atC>atG	p.I161M	CTNNA1_ENST00000355078.5_Missense_Mutation_p.I58M|CTNNA1_ENST00000518825.1_Missense_Mutation_p.I161M	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	161	Involved in homodimerization.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGATGGTATCTTGAAGTTGA	0.388000													3	47					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51094308	51094308	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:51094308C>G	ENST00000395542.2	-	13	3869	c.3685G>C	c.(3685-3687)Gag>Cag	p.E1229Q	COBL_ENST00000265136.7_Missense_Mutation_p.E1147Q			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1147										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CGTTCGCCCTCTGCCTCCGTG	0.582000													12	108					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26609046	26609046	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:26609046G>A	ENST00000314675.7	-	11	1026	c.947C>T	c.(946-948)tCt>tTt	p.S316F	UBXN11_ENST00000374221.3_Missense_Mutation_p.S436F|UBXN11_ENST00000357089.4_Missense_Mutation_p.S403F|UBXN11_ENST00000374222.1_Missense_Mutation_p.S436F|UBXN11_ENST00000374223.1_Missense_Mutation_p.S193F|UBXN11_ENST00000374217.2_Missense_Mutation_p.S403F	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	436						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CTCAAAGGCAGAGGCATCCAT	0.642000													18	121					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104719336	104719336	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:104719336G>C	ENST00000334877.4	+	12	1708	c.1174G>C	c.(1174-1176)Gaa>Caa	p.E392Q	KMT2E_ENST00000311117.3_Missense_Mutation_p.E392Q|KMT2E_ENST00000476671.1_Missense_Mutation_p.E392Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.E392Q|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		TCATGGGCTAGAAATGTGTGT	0.398000													5	90					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62228803	62228803	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:62228803C>G	ENST00000371158.2	+	3	255	c.141C>G	c.(139-141)ttC>ttG	p.F47L	INADL_ENST00000316485.6_Missense_Mutation_p.F47L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	47	L27.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCCTCTCTTCAACCAGATAC	0.368000													13	87					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24229410	24229410	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:24229410G>C	ENST00000379177.1	+	11	2762	c.2335G>C	c.(2335-2337)Gag>Cag	p.E779Q	ZFX_ENST00000338565.3_Missense_Mutation_p.E729Q|ZFX_ENST00000379188.3_Missense_Mutation_p.E779Q|ZFX_ENST00000539115.1_Missense_Mutation_p.E550Q|ZFX_ENST00000304543.5_Missense_Mutation_p.E779Q|ZFX_ENST00000540034.1_Missense_Mutation_p.E818Q	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TCACCGGTGTGAGTACTGCAA	0.443000													20	162					0	0	1	0	0
SLC39A9	55334	broad.mit.edu	37	14	69920001	69920001	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:69920001G>A	ENST00000031146.4	+	3	927	c.249G>A	c.(247-249)acG>acA	p.T83T	SLC39A9_ENST00000556605.1_Silent_p.T149T|SLC39A9_ENST00000336643.5_Silent_p.T149T|SLC39A9_ENST00000557046.1_Intron|SLC39A9_ENST00000555245.1_3'UTR			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	113					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCACCACCACGCTGGGTCTGG	0.448000													43	24					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611268	44611268	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44611268G>A	ENST00000336976.6	+	6	1209	c.955G>A	c.(955-957)Gat>Aat	p.D319N	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	319					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				ATTCCGATGTGATACGTGTGA	0.428000													23	240					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299113	62299113	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62299113C>T	ENST00000378024.4	-	5	3050	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	926					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGCTTTCCTTCAGGTCCTTCA	0.502000													66	174					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693852	45693852	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:45693852C>G	ENST00000310806.4	-	11	2396	c.1938G>C	c.(1936-1938)aaG>aaC	p.K646N		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	646					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TATAAGCTTTCTTCTGATTGA	0.363000													7	58					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43752298	43752298	+	Nonstop_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:43752298G>C	ENST00000372067.3	+	7	1609	c.1115G>C	c.(1114-1116)tGa>tCa	p.*372S	VEGFA_ENST00000230480.6_Nonstop_Mutation_p.*164S|VEGFA_ENST00000520948.1_Nonstop_Mutation_p.*216S|VEGFA_ENST00000324450.6_Nonstop_Mutation_p.*318S|VEGFA_ENST00000523950.1_Nonstop_Mutation_p.*192S|VEGFA_ENST00000413642.3_Nonstop_Mutation_p.*390S|VEGFA_ENST00000425836.2_Nonstop_Mutation_p.*396S|VEGFA_ENST00000417285.2_3'UTR|VEGFA_ENST00000523873.1_Nonstop_Mutation_p.*233S|VEGFA_ENST00000372064.4_Nonstop_Mutation_p.*328S|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000372077.4_Nonstop_Mutation_p.*148S|VEGFA_ENST00000518689.1_Nonstop_Mutation_p.*210S|VEGFA_ENST00000523125.1_3'UTR|VEGFA_ENST00000372055.4_Nonstop_Mutation_p.*413S|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000457104.2_Nonstop_Mutation_p.*138S	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	0					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CCGAGGCGGTGAGCCGGGCAG	0.592000													26	76					0	0	1	0	0
AAK1	22848	broad.mit.edu	37	2	69703063	69703063	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:69703063C>G	ENST00000409085.4	-	22	3200	c.2824G>C	c.(2824-2826)Gag>Cag	p.E942Q	AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	942						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						AGACTGGACTCAGAGCTCCCA	0.493000													3	14					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084502	53084502	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:53084502C>G	ENST00000276480.7	-	10	1602	c.919G>C	c.(919-921)Gag>Cag	p.E307Q		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	307						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATTGCCTGCTCCAGCAAACTT	0.522000													5	82					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183106	33183106	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:33183106C>A	ENST00000397061.3	+	1	240	c.240C>A	c.(238-240)ttC>ttA	p.F80L		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	80	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TGGGCCTCTTCGCGCCGCACC	0.731000													10	44					0.0692343	0.0700125	1	1	0
PICALM	8301	broad.mit.edu	37	11	85779764	85779764	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:85779764G>C	ENST00000526033.1	-	1	375	c.59C>G	c.(58-60)tCt>tGt	p.S20C	PICALM_ENST00000356360.5_Missense_Mutation_p.S20C|PICALM_ENST00000393346.3_Missense_Mutation_p.S20C|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000532317.1_Missense_Mutation_p.S20C|PICALM_ENST00000528411.1_5'UTR	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	20	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGATACGGCAGAGCCGGTGAC	0.652000			T	"""MLLT10, MLL"""	"""TALL, AML, """								3	28					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923439	150923439	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150923439G>A	ENST00000271640.5	+	13	2276	c.2086G>A	c.(2086-2088)Gag>Aag	p.E696K	SETDB1_ENST00000368969.4_Missense_Mutation_p.E696K|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGTCAATGAGATTGACAC	0.468000													7	179					0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42573805	42573805	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:42573805G>A	ENST00000433647.1	+	11	1491	c.867G>A	c.(865-867)aaG>aaA	p.K289K	VIPR1-AS1_ENST00000608869.1_RNA|VIPR1_ENST00000438259.2_Silent_p.K120K|VIPR1_ENST00000543411.1_Silent_p.K282K|VIPR1-AS1_ENST00000610022.1_RNA|VIPR1_ENST00000325123.4_Silent_p.K330K|VIPR1-AS1_ENST00000452639.3_RNA	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	330					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		ATATCAGGAAGAGTGACAGCA	0.542000													4	71					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130992367	130992367	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:130992367C>A	ENST00000383366.4	+	17	1960	c.1667C>A	c.(1666-1668)cCa>cAa	p.P556Q	NEK11_ENST00000510688.1_Intron|NEK11_ENST00000412440.2_Missense_Mutation_p.P372Q|NEK11_ENST00000429253.2_Missense_Mutation_p.P556Q|NEK11_ENST00000508196.1_Missense_Mutation_p.P556Q|NEK11_ENST00000510769.1_Missense_Mutation_p.P451Q	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	556					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCCCCAGGACCACCAATTTTC	0.478000													4	47					0.000602214	0.000624971	1	1	0
OCRL	4952	broad.mit.edu	37	X	128722903	128722903	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:128722903C>A	ENST00000371113.4	+	22	2547	c.2382C>A	c.(2380-2382)ttC>ttA	p.F794L	OCRL_ENST00000357121.5_Missense_Mutation_p.F786L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	794	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCTCATTTTCTTGGAAGCCC	0.537000													20	34					4.35082e-09	4.76144e-09	1	1	0
ZNF260	339324	broad.mit.edu	37	19	37005978	37005978	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37005978G>T	ENST00000523638.1	-	3	1284	c.163C>A	c.(163-165)Cat>Aat	p.H55N	ZNF260_ENST00000588993.1_Missense_Mutation_p.H55N|ZNF260_ENST00000592282.1_Missense_Mutation_p.H55N|ZNF260_ENST00000593142.1_Missense_Mutation_p.H55N	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	55					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GTGCATTCATGAGATTTCTCT	0.363000													11	130					6.40141e-05	6.74254e-05	1	1	0
OR2A12	346525	broad.mit.edu	37	7	143792735	143792735	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:143792735C>G	ENST00000408949.2	+	1	595	c.535C>G	c.(535-537)Caa>Gaa	p.Q179E		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTTTCTGTCAAATCATGTC	0.468000													5	131					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309752	89309752	+	RNA	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:89309752C>A	ENST00000493819.1	-	0	135																											GAGACTGGGTCAACTGGATGT	0.468000													22	204					2.32416e-17	2.60918e-17	1	1	0
KCTD15	79047	broad.mit.edu	37	19	34297855	34297855	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:34297855C>T	ENST00000284006.6	+	5	582	c.330C>T	c.(328-330)ttC>ttT	p.F110F	KCTD15_ENST00000588881.1_Silent_p.F110F|KCTD15_ENST00000430256.3_Silent_p.F110F|KCTD15_ENST00000589786.1_Silent_p.F110F	NM_001129994.1|NM_001129995.1|NM_024076.2	NP_001123466.1|NP_001123467.1|NP_076981.2	Q96SI1	KCD15_HUMAN	potassium channel tetramerization domain containing 15		BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					GGGAGATTTTCCGCTACGTCC	0.547000													16	124					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413967	48413967	+	Missense_Mutation	SNP	C	C	T	rs41314469		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:48413967C>T	ENST00000249598.1	-	2	1060	c.901G>A	c.(901-903)Gag>Aag	p.E301K		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	301					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTGTCCTCCTCGTGACTGCTC	0.622000													6	42					0	0	1	0	0
SLC25A20	788	broad.mit.edu	37	3	48929415	48929415	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:48929415C>T	ENST00000319017.4	-	2	394	c.196G>A	c.(196-198)Gag>Aag	p.E66K	SLC25A20_ENST00000430379.1_Missense_Mutation_p.E66K|SLC25A20_ENST00000544097.1_Missense_Mutation_p.E16K	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	66					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	ATACCAACCTCTCTAAAAAGA	0.498000													11	111					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989750	64989750	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:64989750G>C	ENST00000358738.3	+	2	1919	c.1528G>C	c.(1528-1530)Gat>Cat	p.D510H	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.D510H|ZBTB1_ENST00000554015.1_Missense_Mutation_p.D510H	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AATGCTGGATGATTTTAGGGA	0.388000													30	119					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91726366	91726366	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:91726366G>C	ENST00000359028.2	+	41	10330	c.10105G>C	c.(10105-10107)Gag>Cag	p.E3369Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E3365Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E3315Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3369					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTGTTAAATGAGACTGAAAA	0.443000			T	BRAF	papillary thyroid								9	49					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40713789	40713789	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:40713789G>A	ENST00000298910.7	+	34	4885		c.e34-1		LRRK2_ENST00000481256.1_Splice_Site	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAATCTTTCAGATTTTGACAG	0.313000											OREG0003827	type=REGULATORY REGION|Gene=LOC486608|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	77					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108911038	108911038	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:108911038C>G	ENST00000403312.1	+	1	169	c.127C>G	c.(127-129)Cgc>Ggc	p.R43G	HADH_ENST00000603302.1_5'UTR|HADH_ENST00000309522.3_5'UTR	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	0					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	CTGCCCGCCTCGCGCGTCTTC	0.741000													6	14					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30121860	30121860	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:30121860G>C	ENST00000449742.2	-	7	1407	c.1332C>G	c.(1330-1332)ttC>ttG	p.F444L	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	444	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CAGCGTTGGTGAAGGTCACCC	0.607000													8	37					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915131	39915131	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:39915131G>T	ENST00000425673.1	+	17	3596	c.3271G>T	c.(3271-3273)Gac>Tac	p.D1091Y	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1061Y|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D1120Y|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1120	Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGCCACCTGGACCATCGGAT	0.607000													5	129					0.000602214	0.000624971	1	1	0
SPATS2L	26010	broad.mit.edu	37	2	201332062	201332062	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:201332062C>A	ENST00000358677.5	+	10	1144	c.897C>A	c.(895-897)ctC>ctA	p.L299L	SPATS2L_ENST00000360760.5_Silent_p.L230L|SPATS2L_ENST00000409385.1_Silent_p.L239L|SPATS2L_ENST00000409140.3_Silent_p.L299L|SPATS2L_ENST00000409755.3_Silent_p.L329L|SPATS2L_ENST00000409151.1_Silent_p.L307L|SPATS2L_ENST00000409718.1_Silent_p.L299L|SPATS2L_ENST00000451764.2_Silent_p.L299L|SPATS2L_ENST00000409988.3_Silent_p.L299L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TAAAGAGACTCACTGACCTTG	0.463000													10	32					1.58986e-06	1.7112e-06	1	1	0
PTPDC1	138639	broad.mit.edu	37	9	96860668	96860668	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:96860668C>G	ENST00000375360.3	+	7	1998	c.1658C>G	c.(1657-1659)tCc>tGc	p.S553C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.S605C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	553							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GACTGTGGCTCCAGTCCCAAA	0.512000													50	83					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2505518	2505518	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:2505518C>G	ENST00000397066.4	+	16	1926	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	613	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GACTGCTGCTCTGGCTATGAA	0.637000													6	30					0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060541	49060541	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49060541G>T	ENST00000326925.6	+	5	1625	c.491G>T	c.(490-492)gGa>gTa	p.G164V	NDUFAF3_ENST00000451378.2_Missense_Mutation_p.G107V|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.G107V|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.G107V	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	164					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CGAGTAACTGGAGCTGCTCTC	0.562000													29	53					4.87955e-14	5.45214e-14	1	1	0
UNC13B	10497	broad.mit.edu	37	9	35310567	35310567	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:35310567G>A	ENST00000378495.3	+	9	1087	c.865G>A	c.(865-867)Gag>Aag	p.E289K	UNC13B_ENST00000396787.1_Missense_Mutation_p.E301K|UNC13B_ENST00000378496.4_Missense_Mutation_p.E289K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	289					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGACCATCGGGAGACGGACTC	0.512000													11	127					0	0	1	0	0
ACAD11	84129	broad.mit.edu	37	3	132280014	132280014	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:132280014C>A	ENST00000264990.6	-	18	3020	c.2049G>T	c.(2047-2049)aaG>aaT	p.K683N	ACAD11_ENST00000545291.1_Missense_Mutation_p.K208N|ACAD11_ENST00000355458.3_Missense_Mutation_p.K579N	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						ACAAGCGGATCTTCTCAATGG	0.522000													14	43					4.3838e-07	4.73596e-07	1	1	0
MRM1	79922	broad.mit.edu	37	17	34964726	34964726	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:34964726G>C	ENST00000250156.7	+	5	1176	c.937G>C	c.(937-939)Gag>Cag	p.E313Q	MRM1_ENST00000585770.1_Missense_Mutation_p.E118Q	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	313					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TTTCCCCACAGAGGGGGAGAG	0.562000													8	195					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8992270	8992270	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:8992270C>G	ENST00000344836.4	-	25	2863	c.2665G>C	c.(2665-2667)Gag>Cag	p.E889Q	USP7_ENST00000535863.1_Missense_Mutation_p.E790Q|USP7_ENST00000381886.4_Missense_Mutation_p.E873Q	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	889					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGCCTGTTCTCAAAGTCTGTG	0.328000													11	112					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140648720	140648720	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:140648720G>C	ENST00000460843.1	+	8	1373	c.1346G>C	c.(1345-1347)aGa>aCa	p.R449T	EHMT1_ENST00000462484.1_Missense_Mutation_p.R449T|EHMT1_ENST00000334856.6_Missense_Mutation_p.R418T|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	449	Poly-Arg.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGGAGAAGTAGAAAGAAGCCC	0.582000													5	76					0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136616912	136616912	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:136616912C>G	ENST00000264156.2	-	9	1381	c.1321G>C	c.(1321-1323)Gag>Cag	p.E441Q	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	441	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ATGACAAACTCATGAGATTCT	0.458000													5	25					0	0	1	0	0
EXOC5	10640	broad.mit.edu	37	14	57713431	57713431	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:57713431G>C	ENST00000413566.2	-	3	627	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	EXOC5_ENST00000556911.1_5'UTR|EXOC5_ENST00000340918.7_Missense_Mutation_p.Q90E	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	90					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ACGTTTACCTGATTGCTTTTC	0.343000													4	82					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	191767	191767	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:191767C>G	ENST00000328278.3	+	1	142	c.114C>G	c.(112-114)ttC>ttG	p.F38L		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	38										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CACTCCTGTTCAAAGCCAGCT	0.677000													3	13					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98731305	98731305	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:98731305G>C	ENST00000336273.3	+	10	1737	c.1409G>C	c.(1408-1410)aGa>aCa	p.R470T	MTDH_ENST00000519934.1_Missense_Mutation_p.R414T	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	470					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAAGAGATTAGAGAAGACCTT	0.348000													36	39					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24113724	24113724	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:24113724G>A	ENST00000250383.6	+	7	1123	c.647G>A	c.(646-648)gGa>gAa	p.G216E	DHRS2_ENST00000344777.7_Missense_Mutation_p.G216E	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	194					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		GTGGTTCCAGGAATTATCAAA	0.522000													10	75					0	0	1	0	0
UTP3	57050	broad.mit.edu	37	4	71555258	71555258	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:71555258G>C	ENST00000254803.2	+	1	1063	c.864G>C	c.(862-864)agG>agC	p.R288S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	288					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAAAGCTAGGAGAGTCCCAG	0.433000													6	160					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118628569	118628569	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:118628569C>T	ENST00000336338.5	-	13	1803	c.1738G>A	c.(1738-1740)Gag>Aag	p.E580K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	580						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGCATAAGCTCATGAATTGTA	0.398000													44	31					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127669561	127669561	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:127669561G>T	ENST00000249363.3	-	2	1390	c.1133C>A	c.(1132-1134)cCt>cAt	p.P378H	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	378	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGAGGACATAGGGGGAGTCCG	0.582000													10	75					7.48243e-07	8.07681e-07	1	1	0
GRM6	2916	broad.mit.edu	37	5	178413611	178413611	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:178413611G>A	ENST00000231188.5	-	8	1822	c.1644C>T	c.(1642-1644)ttC>ttT	p.F548F	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.F548F	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	548					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTCCACCTGGAAGCGGTACC	0.682000													11	70					0	0	1	0	0
DNAJC10	54431	broad.mit.edu	37	2	183582959	183582959	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:183582959G>C	ENST00000264065.7	+	3	561	c.146G>C	c.(145-147)aGa>aCa	p.R49T	DNAJC10_ENST00000469118.1_3'UTR|DNAJC10_ENST00000537515.1_Missense_Mutation_p.R49T	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		J.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCAAGCAGTAGAGAAATAAGA	0.333000													8	45					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121500244	121500244	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:121500244C>T	ENST00000260197.7	+	48	6746	c.6617C>T	c.(6616-6618)tCa>tTa	p.S2206L	SORL1_ENST00000525532.1_Missense_Mutation_p.S1150L|SORL1_ENST00000534286.1_Missense_Mutation_p.S1116L|SORL1_ENST00000532694.1_Missense_Mutation_p.S1052L|SORL1_ENST00000527934.1_Missense_Mutation_p.S821L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2206					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACTGGATTTTCAGATGACGTC	0.398000													9	70					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107319306	107319306	+	Splice_Site	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:107319306G>T	ENST00000415430.3	+	7	957		c.e7-1		VSIG1_ENST00000217957.5_Splice_Site	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1							integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTATCCTTCAGATCCAGAAGT	0.438000													5	59					0.000602214	0.000624971	1	1	0
SLC25A42	284439	broad.mit.edu	37	19	19212610	19212610	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:19212610C>G	ENST00000318596.7	+	3	253	c.102C>G	c.(100-102)ctC>ctG	p.L34L	SLC25A42_ENST00000600275.1_3'UTR	NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	34					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCAAGTGCTCAGCTCCCTGC	0.597000													7	110					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196849371	196849371	+	Silent	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:196849371T>C	ENST00000312428.6	-	15	1918	c.1818A>G	c.(1816-1818)gaA>gaG	p.E606E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	606	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCATTAGTTCTGCTGTAT	0.333000													5	36					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523196	43523196	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:43523196C>G	ENST00000401740.1	-	3	538	c.435G>C	c.(433-435)gaG>gaC	p.E145D	PSG11_ENST00000403486.1_Missense_Mutation_p.E23D|PSG11_ENST00000320078.7_Missense_Mutation_p.E145D|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.E23D			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	145					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GCTTGGGAGTCTCCACTGTGC	0.512000													17	400					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081101	152081101	+	Missense_Mutation	SNP	C	C	G	rs71585886		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152081101C>G	ENST00000368804.1	-	2	4591	c.4592G>C	c.(4591-4593)aGa>aCa	p.R1531T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1531	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTTTCTCTGCCGTTG	0.597000													11	123					0	0	1	0	0
TRAFD1	10906	broad.mit.edu	37	12	112586054	112586054	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:112586054C>G	ENST00000257604.5	+	8	1721	c.1104C>G	c.(1102-1104)atC>atG	p.I368M	TRAFD1_ENST00000412615.2_Missense_Mutation_p.I368M	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	368					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GCATCATTATCCCATGTGAAT	0.517000													21	72					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133802638	133802638	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:133802638C>G	ENST00000367895.5	+	12	1472	c.1008C>G	c.(1006-1008)atC>atG	p.I336M	EYA4_ENST00000430974.2_Missense_Mutation_p.I288M|EYA4_ENST00000452339.2_Missense_Mutation_p.I282M|EYA4_ENST00000355167.3_Missense_Mutation_p.I336M|EYA4_ENST00000355286.6_Missense_Mutation_p.I313M|EYA4_ENST00000525849.1_Missense_Mutation_p.I313M|EYA4_ENST00000531901.1_Missense_Mutation_p.I342M|EYA4_ENST00000431403.2_Missense_Mutation_p.I336M	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	336					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCACACCCATCAAAGATCTTG	0.458000													6	89					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22846725	22846725	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:22846725G>C	ENST00000404138.1	+	15	3516	c.3005G>C	c.(3004-3006)gGa>gCa	p.G1002A	ZBTB40_ENST00000375647.4_Missense_Mutation_p.G1002A|ZBTB40_ENST00000374651.4_Missense_Mutation_p.G890A	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1002					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACCCACGTTGGAGGGAAGCCC	0.607000													3	62					0	0	1	0	0
GNL2	29889	broad.mit.edu	37	1	38034890	38034890	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:38034890G>T	ENST00000373062.3	-	13	1528	c.1430C>A	c.(1429-1431)tCa>tAa	p.S477*	GNL2_ENST00000462812.1_5'UTR	NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	477					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TTCCAAAGATGAGGAGGGTAG	0.418000													6	100					4.096e-09	4.48634e-09	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176013005	176013005	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:176013005C>G	ENST00000510636.1	+	20	3059	c.2785C>G	c.(2785-2787)Ctg>Gtg	p.L929V	CDHR2_ENST00000506348.1_Missense_Mutation_p.L929V|CDHR2_ENST00000261944.5_Missense_Mutation_p.L929V	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	929					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACCCTATTTTCTGCCTGAGAA	0.517000													5	54					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15646139	15646139	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:15646139C>T	ENST00000341285.3	-	2	401	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	FBXL5_ENST00000412094.2_Missense_Mutation_p.E76K|FBXL5_ENST00000382358.4_5'UTR	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	93	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGTCCCTTTTCAAAGAGGCTA	0.363000													17	39					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128627780	128627780	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:128627780G>C	ENST00000335251.6	+	12	2030	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTCTCGCATAGATGAACGGCT	0.468000													35	58					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122845599	122845599	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:122845599G>A	ENST00000358808.2	-	5	1066	c.912C>T	c.(910-912)tcC>tcT	p.S304S	CLIP1_ENST00000540338.1_Silent_p.S304S|CLIP1_ENST00000302528.7_Silent_p.S304S|CLIP1_ENST00000361654.4_Silent_p.S304S|CLIP1_ENST00000545889.1_Silent_p.S5S|CLIP1_ENST00000537178.1_Silent_p.S304S	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	304	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCAGGCTGGCGGACGTGGTCG	0.597000													6	56					0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44469989	44469989	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44469989C>T	ENST00000251269.5	+	6	663	c.335C>T	c.(334-336)cCa>cTa	p.P112L	ZNF221_ENST00000587682.1_Missense_Mutation_p.P112L|ZNF221_ENST00000592350.1_Missense_Mutation_p.P112L	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAGACTGTTCCAGAAGCAGGA	0.418000													4	118					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169390963	169390963	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:169390963G>C	ENST00000545005.1	-	4	1213	c.706C>G	c.(706-708)Cag>Gag	p.Q236E	CCDC181_ENST00000367805.3_Missense_Mutation_p.Q236E|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.Q236E					coiled-coil domain containing 181																		AAAAACCCCTGACTGGCAATG	0.408000													6	208					0	0	1	0	0
C6orf223	221416	broad.mit.edu	37	6	43968406	43968406	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:43968406C>A	ENST00000336600.5	+	1	70	c.50C>A	c.(49-51)tCa>tAa	p.S17*	C6orf223_ENST00000442114.2_5'UTR|RP5-1120P11.1_ENST00000607590.1_RNA|RP5-1120P11.1_ENST00000422059.1_RNA|C6orf223_ENST00000439969.2_Nonsense_Mutation_p.S17*|C6orf223_ENST00000448947.2_3'UTR	NM_001171992.1|NM_153246.4	NP_001165463.1|NP_694978.2	Q8N319	CF223_HUMAN	chromosome 6 open reading frame 223	17										central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			GGAGGCCCTTCAGCAACGGAG	0.607000													5	26					0.00198382	0.00203771	1	1	0
MKLN1	4289	broad.mit.edu	37	7	131122754	131122754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:131122754C>T	ENST00000352689.6	+	10	1211	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.Q299*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	391					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTTTGATCATCAGGTTTGATG	0.368000													4	87					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10662773	10662773	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:10662773C>T	ENST00000309469.4	+	8	1271	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	ATG4D_ENST00000540862.1_Silent_p.V33V	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	366					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTGTGGATGTCAGCCAGGCCG	0.662000													12	124					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874140	151874140	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:151874140C>A	ENST00000355193.2	-	38	8616	c.8398G>T	c.(8398-8400)Gaa>Taa	p.E2800*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.E2800*					lysine (K)-specific methyltransferase 2C																		GTTTTGTTTTCTTGTTCCTTT	0.348000													17	50					2.23348e-06	2.40097e-06	1	1	0
RAI14	26064	broad.mit.edu	37	5	34824525	34824525	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:34824525C>G	ENST00000265109.3	+	15	2865	c.2578C>G	c.(2578-2580)Cag>Gag	p.Q860E	RAI14_ENST00000506376.1_Missense_Mutation_p.Q852E|RAI14_ENST00000428746.2_Missense_Mutation_p.Q860E|RAI14_ENST00000512629.1_Missense_Mutation_p.Q831E|RAI14_ENST00000397449.1_Missense_Mutation_p.Q853E|RAI14_ENST00000515799.1_Missense_Mutation_p.Q863E|RAI14_ENST00000503673.1_Missense_Mutation_p.Q860E	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	860						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CCAGCAAGCTCAGGAAGAACT	0.378000													8	79					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118590035	118590035	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:118590035C>G	ENST00000392533.3	-	20	3022	c.2532G>C	c.(2530-2532)caG>caC	p.Q844H	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000537952.1_Missense_Mutation_p.Q384H|TAOK3_ENST00000536979.1_Missense_Mutation_p.Q39H|TAOK3_ENST00000419821.2_Missense_Mutation_p.Q844H	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	844					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCTTACCTTCTGCTCAAGGT	0.527000													5	54					0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46935620	46935620	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:46935620C>G	ENST00000311124.4	-	6	1880	c.1728G>C	c.(1726-1728)ctG>ctC	p.L576L	SLC19A1_ENST00000485649.2_Silent_p.L536L|SLC19A1_ENST00000567670.1_Intron|SLC19A1_ENST00000380010.4_Intron	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	576					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACTGCAAACCCAGCTTGCTGA	0.612000													26	106					0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3180686	3180686	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:3180686C>T	ENST00000354488.3	-	4	528	c.471G>A	c.(469-471)aaG>aaA	p.K157K	DDRGK1_ENST00000380201.2_Silent_p.K157K	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	157						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CCTCCTCCTTCTTCCACTCAG	0.617000													7	31					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122749313	122749313	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:122749313C>T	ENST00000264499.4	-	18	2185	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	BBS7_ENST00000506636.1_Missense_Mutation_p.E668K	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	668					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAGAGTCTTTCAAGATGTGCA	0.398000									Bardet-Biedl syndrome				9	85					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33043828	33043828	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:33043828C>G	ENST00000286835.7	-	20	3710	c.3328G>C	c.(3328-3330)Gag>Cag	p.E1110Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.E1095Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.E1088Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1110						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACCCCCTTCTCAAGTTCTGAA	0.512000													4	68					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3657194	3657194	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:3657194C>T	ENST00000263087.4	-	13	1508	c.1410G>A	c.(1408-1410)aaG>aaA	p.K470K		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	470					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GGCTGCAGGTCTTGTGCAGCA	0.637000													25	33					0	0	1	0	0
ARPC5	10092	broad.mit.edu	37	1	183604737	183604737	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:183604737C>A	ENST00000359856.6	-	1	124	c.58G>T	c.(58-60)Gac>Tac	p.D20Y	ARPC5_ENST00000294742.6_Missense_Mutation_p.D20Y|ARPC5_ENST00000367534.1_Missense_Mutation_p.D20Y	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	20					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						TTGTTCTCGTCATATTCATCC	0.612000													5	89					0.000602214	0.000624971	1	1	0
ZNF292	23036	broad.mit.edu	37	6	87966202	87966202	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:87966202G>A	ENST00000369577.3	+	8	2898	c.2855G>A	c.(2854-2856)gGa>gAa	p.G952E	ZNF292_ENST00000339907.4_Missense_Mutation_p.G947E	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATAACTTTGGAAAGCAAGAA	0.433000													7	42					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													5	51					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19823030	19823030	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:19823030C>G	ENST00000344099.3	-	4	1198	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGAGTTCTTTCATGCACTCGA	0.388000													8	47					0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151254	105151254	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:105151254C>G	ENST00000303694.5	+	3	1171	c.732C>G	c.(730-732)ctC>ctG	p.L244L	CHST11_ENST00000549260.1_Silent_p.L239L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	244					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TGGCCTATCTCATCGACCCAC	0.577000													11	41					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374425	113374425	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:113374425C>T	ENST00000316407.4	-	7	6514	c.6104G>A	c.(6103-6105)gGa>gAa	p.G2035E	KIAA2018_ENST00000478658.1_Missense_Mutation_p.G2035E|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	2035					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACAATACTTCCTCTCTTCTC	0.418000													5	83					0	0	1	0	0
GYPA	2993	broad.mit.edu	37	4	145039873	145039873	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:145039873C>G	ENST00000360771.4	-	4	380	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	GYPA_ENST00000324022.10_Missense_Mutation_p.E56Q|GYPA_ENST00000535709.1_Missense_Mutation_p.E63Q|GYPB_ENST00000283126.7_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.E24Q|GYPA_ENST00000504786.1_Missense_Mutation_p.E57Q|GYPA_ENST00000512064.1_Intron	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	89					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATACCTGGTTCAGAGAAATGA	0.313000													3	30					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3029941	3029941	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:3029941C>G	ENST00000328890.2	-	1	934	c.905G>C	c.(904-906)aGa>aCa	p.R302T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GATTAACTTTCTCAGGGAAGA	0.438000													8	52					0	0	1	0	0
MED6	10001	broad.mit.edu	37	14	71059650	71059650	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:71059650C>T	ENST00000256379.5	-	5	442	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	MED6_ENST00000556044.1_5'UTR|MED6_ENST00000440435.2_Missense_Mutation_p.R138Q|MED6_ENST00000430055.2_Missense_Mutation_p.R145Q|MED6_ENST00000554963.1_Missense_Mutation_p.R138Q	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	138					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	transcription coactivator activity			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		AGGATGATATCGACAGTATGA	0.383000													20	84					0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15137583	15137583	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:15137583G>C	ENST00000253699.3	-	4	658	c.45C>G	c.(43-45)ctC>ctG	p.L15L	ZFYVE20_ENST00000449050.1_Silent_p.L15L|ZFYVE20_ENST00000476527.2_Silent_p.L15L|ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Silent_p.L15L	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	15					blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						ACAGAGGGCAGAGGAAGCCCT	0.537000													21	63					0	0	1	0	0
NAT9	26151	broad.mit.edu	37	17	72767989	72767989	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:72767989C>G	ENST00000357814.3	-	7	571	c.498G>C	c.(496-498)acG>acC	p.T166T	NAT9_ENST00000580301.1_Silent_p.T165T|NAT9_ENST00000583757.1_Intron|NAT9_ENST00000583476.1_3'UTR|NAT9_ENST00000578822.1_Silent_p.T171T|NAT9_ENST00000582870.1_Silent_p.T170T|NAT9_ENST00000582524.1_Intron|NAT9_ENST00000581136.1_Silent_p.T161T|NAT9_ENST00000580632.1_Silent_p.T166T	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	166	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAACACTGCTCGTAGCCACCT	0.557000													8	97					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090515	184090515	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:184090515G>T	ENST00000204615.7	-	6	1062	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.S279Y|THPO_ENST00000421442.2_Silent_p.L244L	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	283					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGGTGGCAGGGAGCCTGTGTC	0.567000													45	165					5.78141e-17	6.48762e-17	1	1	0
OR10A4	283297	broad.mit.edu	37	11	6897886	6897886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:6897886G>A	ENST00000379829.2	+	1	31	c.8G>A	c.(7-9)tGg>tAg	p.W3*		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGAATGATGTGGGAAAACTGG	0.393000													4	95					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151073762	151073762	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:151073762C>G	ENST00000474524.1	+	17	2529	c.2491C>G	c.(2491-2493)Cag>Gag	p.Q831E	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.Q691E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	831					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCACCACATTCAGCTCATCTT	0.398000													6	47					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26962381	26962381	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:26962381C>G	ENST00000528896.2	-	16	2298	c.2224G>C	c.(2224-2226)Gct>Cct	p.A742P	KIAA0100_ENST00000544884.1_Missense_Mutation_p.A599P|KIAA0100_ENST00000389003.3_Missense_Mutation_p.A599P|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	742						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCTACAAAAGCTGTGAGCTTG	0.562000													9	132					0	0	1	0	0
CXADR	1525	broad.mit.edu	37	21	18933112	18933112	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:18933112C>A	ENST00000284878.7	+	5	1412	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	CXADR_ENST00000400165.1_Intron|CXADR_ENST00000400169.1_Missense_Mutation_p.Q222K|CXADR_ENST00000306618.10_Intron|CXADR_ENST00000400166.1_Intron|CXADR_ENST00000356275.6_Intron	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	222	Ig-like C2-type 2.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		GGGCTCTGATCAGTGCCTGTT	0.408000													4	113					1.23904e-05	1.31784e-05	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	51995071	51995071	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:51995071C>T	ENST00000291707.3	-	8	1667	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.E420K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	538					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCCGGGGATTCAATCAGGGGT	0.617000													6	41					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856293	21856293	+	Missense_Mutation	SNP	T	T	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:21856293T>A	ENST00000328843.6	+	65	10593	c.10562T>A	c.(10561-10563)cTg>cAg	p.L3521Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.L3514Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3521	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAATGGACCTGAAAGTCACA	0.453000									Kartagener syndrome				6	56					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37853220	37853220	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37853220C>T	ENST00000324411.4	+	6	792	c.523C>T	c.(523-525)Caa>Taa	p.Q175*	HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000589392.1_Nonsense_Mutation_p.Q157*|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Nonsense_Mutation_p.Q156*|HKR1_ENST00000541583.2_Nonsense_Mutation_p.Q114*|HKR1_ENST00000544914.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	175					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAATGGATTCAAGAGGGAGA	0.473000													7	68					0	0	1	0	0
SKP1	6500	broad.mit.edu	37	5	133494131	133494131	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:133494131C>G	ENST00000522552.1	-	5	580	c.471G>C	c.(469-471)caG>caC	p.Q157H	SKP1_ENST00000353411.6_Intron|SKP1_ENST00000522855.1_Intron|SKP1_ENST00000521216.1_Intron|SKP1_ENST00000517625.1_Intron	NM_006930.3	NP_008861.2	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	158	Interaction with the F-box domain of F- box proteins (By similarity).				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAAGACAAAACTGTGTGCTAC	0.403000													16	72					0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75182720	75182720	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:75182720C>T	ENST00000341162.4	+	4	264	c.210C>T	c.(208-210)ctC>ctT	p.L70L	FCF1_ENST00000534938.2_Silent_p.L58L|FCF1_ENST00000553615.1_Silent_p.L55L	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	70	PINc.				rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ACCACATCCTCGTTGATACCA	0.388000													23	96					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72500975	72500975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:72500975C>A	ENST00000319622.6	-	6	1279	c.823G>T	c.(823-825)Gag>Tag	p.E275*	PKM_ENST00000565184.1_Nonsense_Mutation_p.E275*|PKM_ENST00000389093.3_Nonsense_Mutation_p.E275*|PKM_ENST00000449901.2_Nonsense_Mutation_p.E260*|PKM_ENST00000568459.1_Nonsense_Mutation_p.E275*|PKM_ENST00000335181.5_Nonsense_Mutation_p.E275*|PKM_ENST00000568883.1_Nonsense_Mutation_p.E110*|PKM_ENST00000565154.1_Nonsense_Mutation_p.E275*	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						CGAACCCCCTCATGATTCTCG	0.532000													9	57					1.12685e-05	1.20047e-05	1	1	0
NUP133	55746	broad.mit.edu	37	1	229613468	229613468	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:229613468G>C	ENST00000261396.3	-	13	1723	c.1632C>G	c.(1630-1632)ctC>ctG	p.L544L	NUP133_ENST00000537506.1_Silent_p.L528L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	544					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GAGAGGAAAAGAGCTCATCAA	0.398000													12	19					0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3604254	3604254	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3604254G>A	ENST00000301749.7	-	0	2661				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCATGGAGAGGGTCCGGT	0.577000													7	28					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6529203	6529203	+	Silent	SNP	C	C	T	rs74946360		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:6529203C>T	ENST00000377748.1	-	20	2876	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	PLEKHG5_ENST00000340850.5_Silent_p.E716E|PLEKHG5_ENST00000377740.3_Silent_p.E793E|PLEKHG5_ENST00000377725.1_Silent_p.E716E|PLEKHG5_ENST00000377737.2_Silent_p.E716E|PLEKHG5_ENST00000535355.1_Silent_p.E785E|PLEKHG5_ENST00000544978.1_Silent_p.E716E|PLEKHG5_ENST00000377732.1_Silent_p.E753E|PLEKHG5_ENST00000537245.1_Silent_p.E795E|PLEKHG5_ENST00000377728.3_Silent_p.E716E|PLEKHG5_ENST00000400913.1_Silent_p.E716E|PLEKHG5_ENST00000400915.3_Silent_p.E772E	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	772					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		cctcctcctcctcctcttcct	0.632000													4	115					0	0	1	0	0
DHRS7	51635	broad.mit.edu	37	14	60616835	60616835	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:60616835C>G	ENST00000216500.5	-	6	1159	c.704G>C	c.(703-705)gGa>gCa	p.G235A	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.G185A|DHRS7_ENST00000557185.1_Missense_Mutation_p.G235A|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	235							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TTGCACAGGTCCTGGGCAAAT	0.333000													9	54					0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156046925	156046925	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156046925G>A	ENST00000532414.2	-	2	1002	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	335						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTGTTCTGCCGGAAGGTGGAG	0.682000													129	122					0	0	1	0	0
GCSAM	257144	broad.mit.edu	37	3	111849318	111849318	+	Missense_Mutation	SNP	C	C	G	rs150107971	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:111849318C>G	ENST00000308910.4	-	2	256	c.72G>C	c.(70-72)atG>atC	p.M24I	C3orf52_ENST00000467942.2_3'UTR|GCSAM_ENST00000484193.1_Missense_Mutation_p.M26I	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		TGGGGCTTTGCATTCTCACAT	0.478000													16	169					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52943058	52943058	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:52943058C>G	ENST00000295213.4	+	7	1246	c.872C>G	c.(871-873)tCc>tGc	p.S291C	SPATA18_ENST00000419395.2_Missense_Mutation_p.S259C	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	291	Ser-rich.				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CCAAACCGCTCCAAGCTGTCC	0.682000													4	45					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120464368	120464368	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:120464368C>T	ENST00000256646.2	-	29	5497	c.5278G>A	c.(5278-5280)Gat>Aat	p.D1760N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1760					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTCATCATCGACCCAGTGT	0.398000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				6	57					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027532	150027532	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:150027532G>C	ENST00000343855.4	+	1	595	c.39G>C	c.(37-39)ctG>ctC	p.L13L	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		AGGCCTCTCTGAGCCAGGTGC	0.642000													15	156					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124154644	124154644	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:124154644G>C	ENST00000287380.1	+	19	2873	c.2783G>C	c.(2782-2784)aGa>aCa	p.R928T	TBC1D31_ENST00000378080.2_Intron|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R805T|TBC1D31_ENST00000518805.1_Missense_Mutation_p.R482T|TBC1D31_ENST00000309336.3_Intron|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R823T|TBC1D31_ENST00000327098.5_Intron	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		AGGGAAAACAGAAGGAAAGAA	0.328000													4	24					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676886	53676886	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:53676886G>C	ENST00000371486.3	+	4	2055	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	514					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GAGGTGCTCTGAGGCCTTTGT	0.592000													5	35					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86118439	86118439	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:86118439C>G	ENST00000418930.2	+	4	730	c.534C>G	c.(532-534)atC>atG	p.I178M	E2F5_ENST00000517476.1_Missense_Mutation_p.I17M|E2F5_ENST00000416274.2_Missense_Mutation_p.I178M|E2F5_ENST00000256117.5_Missense_Mutation_p.I179M|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.S4C			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	178	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATGAAGACATCTGTAATTGCT	0.368000													13	41					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37576139	37576139	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37576139G>A	ENST00000300651.6	-	14	1351	c.1128C>T	c.(1126-1128)ctC>ctT	p.L376L	MED1_ENST00000394287.3_Silent_p.L376L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	376	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CATCCTTGTTGAGGAAATAGC	0.463000										HNSCC(31;0.082)			9	141					0	0	1	0	0
PUS10	150962	broad.mit.edu	37	2	61187530	61187530	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:61187530C>G	ENST00000316752.6	-	11	1258	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	PUS10_ENST00000407787.1_Missense_Mutation_p.E333Q	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	333					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			CACTTACTCTCTGCTTTAAAT	0.363000													5	92					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105459345	105459345	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:105459345C>T	ENST00000264122.4	-	7	1297	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	CBLB_ENST00000394027.3_Missense_Mutation_p.E348K|CBLB_ENST00000405772.1_Missense_Mutation_p.E326K|CBLB_ENST00000403724.1_Missense_Mutation_p.E326K|CBLB_ENST00000545639.1_3'UTR	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	326	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TACAATCCTTCCCTGCTGCCA	0.428000			Mis S		AML								6	56					0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52972180	52972180	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:52972180G>C	ENST00000349258.4	-	3	752	c.208C>G	c.(208-210)Cag>Gag	p.Q70E	THSD1_ENST00000258613.4_Missense_Mutation_p.Q70E|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	70						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GTTACAGTCTGATTGGTGTTG	0.458000													20	31					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961437	1961437	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:1961437G>T	ENST00000378585.4	+	9	1158	c.1075G>T	c.(1075-1077)Gcc>Tcc	p.A359S		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	359						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CGTGAGGAACGCCATTGTCCT	0.687000													7	78					8.12818e-05	8.54753e-05	1	1	0
PTPN23	25930	broad.mit.edu	37	3	47448072	47448072	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:47448072G>T	ENST00000265562.4	+	8	806	c.729G>T	c.(727-729)atG>atT	p.M243I	PTPN23_ENST00000431726.1_Missense_Mutation_p.M117I	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	243	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGTGCAGATGAAGATCTACT	0.617000													4	56					0.150653	0.15135	1	1	0
ZNF17	7565	broad.mit.edu	37	19	57931119	57931119	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:57931119G>A	ENST00000307658.7	+	4	528	c.265G>A	c.(265-267)Gag>Aag	p.E89K	ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000601808.1_Missense_Mutation_p.E87K|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Missense_Mutation_p.E99K			P17021	ZNF17_HUMAN	zinc finger protein 17	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CCAGCCCTGTGAGACATGTAG	0.517000													34	44					0	0	1	0	0
HNRNPD	3184	broad.mit.edu	37	4	83278511	83278511	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:83278511C>T	ENST00000313899.7	-	5	985	c.708G>A	c.(706-708)gtG>gtA	p.V236V	HNRNPD_ENST00000352301.4_Silent_p.V217V|HNRNPD_ENST00000543098.1_Silent_p.V184V|HNRNPD_ENST00000353341.4_Silent_p.V236V|HNRNPD_ENST00000508119.1_5'UTR|HNRNPD_ENST00000541060.1_Silent_p.V82V	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	236	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTATCTTCTTCACTGGTTCTT	0.368000													8	21					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185990	127185990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:127185990C>A	ENST00000371124.3	-	1	392	c.196G>T	c.(196-198)Gag>Tag	p.E66*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	66						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGTAGGGCCTCATACTTGTAC	0.478000													52	56					4.86159e-25	5.48849e-25	1	1	0
ZNF143	7702	broad.mit.edu	37	11	9522638	9522638	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:9522638G>C	ENST00000396602.2	+	11	1087	c.968G>C	c.(967-969)gGa>gCa	p.G323A	ZNF143_ENST00000530463.1_Splice_Site_p.G322A|ZNF143_ENST00000299606.2_Splice_Site_p.G295A|ZNF143_ENST00000396604.1_Splice_Site_p.G322A|ZNF143_ENST00000396597.3_Splice_Site_p.G292A	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	323					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ATATTTGCAGGAGAAAGGCCC	0.398000													7	75					0	0	1	0	0
CRYGS	1427	broad.mit.edu	37	3	186256614	186256614	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:186256614G>C	ENST00000392499.2	-	4	747	c.408C>G	c.(406-408)gtC>gtG	p.V136V	CRYGS_ENST00000307944.5_Silent_p.V136V	NM_017541.2	NP_060011.1	P22914	CRBS_HUMAN	crystallin, gamma S	136	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		AGAAAATCCAGACACCCTCCA	0.522000													13	28					0	0	1	0	0
FRMD4B	23150	broad.mit.edu	37	3	69230359	69230359	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:69230359C>G	ENST00000542259.1	-	22	2831	c.2380G>C	c.(2380-2382)Gag>Cag	p.E794Q	FRMD4B_ENST00000398540.3_Missense_Mutation_p.E848Q|FRMD4B_ENST00000478263.1_Missense_Mutation_p.E500Q			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	848						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCTGGCGCTCATATCCATAG	0.522000													7	62					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44371606	44371606	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:44371606G>C	ENST00000371477.3	+	6	899	c.600G>C	c.(598-600)aaG>aaC	p.K200N		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	200					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAATTCAGAAGAAAAGAAAAA	0.378000													4	61					0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68838868	68838868	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:68838868C>G	ENST00000294309.3	+	10	1041	c.940C>G	c.(940-942)Cag>Gag	p.Q314E	TPCN2_ENST00000542467.1_Missense_Mutation_p.Q314E|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	314					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CATCTACAGTCAGTTCCGGGG	0.597000													4	19					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44072574	44072574	+	Silent	SNP	G	G	A	rs111705998		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:44072574G>A	ENST00000359947.4	+	21	4132	c.3792G>A	c.(3790-3792)gtG>gtA	p.V1264V	PTPRF_ENST00000422171.2_Silent_p.V612V|PTPRF_ENST00000372413.3_Silent_p.V1255V|PTPRF_ENST00000438120.1_Silent_p.V1255V|PTPRF_ENST00000372414.3_Silent_p.V1264V|PTPRF_ENST00000496447.1_3'UTR	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1264					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCTGTGGGTGACGGGTCCCG	0.617000													16	268					0	0	1	0	0
ARL13A	392509	broad.mit.edu	37	X	100243243	100243243	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:100243243G>A	ENST00000450049.2	+	7	828	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	239							GTP binding			endometrium(1)|ovary(1)	2						ATGCTCAATCGAAGCTAAGCC	0.443000													8	6					0	0	1	0	0
PCP2	126006	broad.mit.edu	37	19	7697404	7697404	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7697404C>G	ENST00000311069.5	-	3	457		c.e3-1		PCP2_ENST00000598935.1_Splice_Site|CTD-3214H19.4_ENST00000595866.1_Intron	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2						signal transduction		GTPase activator activity			endometrium(1)|urinary_tract(1)	2						GGGTCGCTCTCTGCGTGGACG	0.642000													9	130					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137858	32137858	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:32137858G>A	ENST00000312561.4	+	4	4383	c.3969G>A	c.(3967-3969)caG>caA	p.Q1323Q	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		AAACCCGACAGAAGAAACATG	0.353000													6	131					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69882090	69882090	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:69882090C>G	ENST00000358913.5	+	2	1383	c.895C>G	c.(895-897)Caa>Gaa	p.Q299E	MYPN_ENST00000373675.3_Missense_Mutation_p.Q299E|MYPN_ENST00000540630.1_Missense_Mutation_p.Q299E|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	299	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TCCACCACCTCAAGTAAGGTA	0.443000													7	55					0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23857059	23857059	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:23857059C>T	ENST00000361729.2	-	1	653	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	76	Cyclin A/CDK2 binding (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CGGCAGGCATCGCACAACTTG	0.692000													4	54					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54096591	54096591	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:54096591C>T	ENST00000404125.1	-	44	5240	c.5185G>A	c.(5185-5187)Gag>Aag	p.E1729K	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Missense_Mutation_p.E873K	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1729					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|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|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAAAGTTGCTCAAAATGAATC	0.408000													9	220					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270182	65270182	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:65270182C>G	ENST00000534336.1	+	0	4950					NR_002819.2																						GAAAACAGCTCCTTGGTGAAT	0.368000													4	31					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176523644	176523644	+	Silent	SNP	C	C	T	rs67419797		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:176523644C>T	ENST00000292408.4	+	16	2300	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	FGFR4_ENST00000292410.3_Silent_p.L645L|FGFR4_ENST00000393637.1_Silent_p.L645L|FGFR4_ENST00000502906.1_Silent_p.L685L|FGFR4_ENST00000393648.2_Silent_p.L617L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	685	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TCTTCACCCTCGGGGGCTCCC	0.667000										TSP Lung(9;0.080)			4	28					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20346572	20346572	+	Splice_Site	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:20346572T>G	ENST00000380338.4	-	11	1862	c.1576A>C	c.(1576-1578)Atc>Ctc	p.I526L	MLLT3_ENST00000355930.6_Splice_Site_p.I96L|MLLT3_ENST00000380321.1_Splice_Site_p.I120L|MLLT3_ENST00000429426.2_Splice_Site_p.I523L	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		AGGTTCACGATCTAGAGGAGT	0.398000			T	MLL	ALL								5	36					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643257	49643257	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:49643257G>C	ENST00000334186.4	+	18	2629	c.2280G>C	c.(2278-2280)aaG>aaC	p.K760N	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K760N	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	760						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCCCCAAGAAGAAGAGCATCA	0.552000													6	103					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55223794	55223794	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:55223794G>C	ENST00000371279.3	-	2	1123	c.1041C>G	c.(1039-1041)atC>atG	p.I347M		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	347					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCCAAGATCCGTGTCA	0.542000													18	174					0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202625818	202625818	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:202625818G>C	ENST00000264276.6	-	4	1271	c.899C>G	c.(898-900)tCt>tGt	p.S300C	ALS2_ENST00000467448.1_Missense_Mutation_p.S300C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	300					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGTAGCAACAGACTGATCATT	0.473000													5	82					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361458	51361458	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:51361458C>T	ENST00000360617.3	+	3	380	c.380C>T	c.(379-381)tCa>tTa	p.S127L	KLK3_ENST00000593997.1_Missense_Mutation_p.S127L|KLK3_ENST00000326003.2_Missense_Mutation_p.S127L|KLK3_ENST00000595952.1_Missense_Mutation_p.S84L|KLK3_ENST00000597483.1_Missense_Mutation_p.S84L			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	127	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CTCCGCCTGTCAGAGCCTGCC	0.617000													14	25					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231057185	231057185	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:231057185C>G	ENST00000366661.4	-	16	1887	c.1880G>C	c.(1879-1881)aGa>aCa	p.R627T	TTC13_ENST00000414259.1_Missense_Mutation_p.R574T|TTC13_ENST00000366662.4_Missense_Mutation_p.R574T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	627							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AACAAGAATTCTGTCTTTAAT	0.259000													11	7					0	0	1	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112997151	112997151	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:112997151G>C	ENST00000271277.6	+	5	636	c.411G>C	c.(409-411)gaG>gaC	p.E137D		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	137						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGCTAGAGAAGGAAAGAG	0.438000													27	73					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198948700	198948700	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:198948700C>G	ENST00000428675.1	+	2	857	c.459C>G	c.(457-459)ctC>ctG	p.L153L	PLCL1_ENST00000437704.2_Silent_p.L55L	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	153	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAAAGACCTCGAGAAAGCCA	0.443000													6	42					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677932	37677932	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37677932C>G	ENST00000532828.2	-	5	758	c.507G>C	c.(505-507)caG>caC	p.Q169H	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.Q114H|ZNF585B_ENST00000312908.5_Intron|ZNF585B_ENST00000527838.1_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCTGGCTTCTGTACAAAAG	0.393000													12	135					0	0	1	0	0
FBXO41	150726	broad.mit.edu	37	2	73491079	73491079	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:73491079C>T	ENST00000521871.1	-	7	2324	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T	FBXO41_ENST00000295133.5_Missense_Mutation_p.A698T|FBXO41_ENST00000520530.2_Missense_Mutation_p.A637T			Q8TF61	FBX41_HUMAN	F-box protein 41	637						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTGCTCCGGGCATACTCCTCC	0.622000													6	17					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7414540	7414540	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:7414540G>C	ENST00000322644.6	+	23	4219	c.3820G>C	c.(3820-3822)Gag>Cag	p.E1274Q		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1274					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCAGGAGGAAGAGGTGGTGGA	0.552000													10	28					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100402961	100402961	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:100402961G>C	ENST00000372927.1	+	19	2182	c.1905G>C	c.(1903-1905)aaG>aaC	p.K635N	CENPI_ENST00000218507.5_Missense_Mutation_p.K635N|CENPI_ENST00000423383.1_Missense_Mutation_p.K635N	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	635					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TCAGCAGCAAGACTTATCAAG	0.373000													5	52					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183883251	183883251	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:183883251C>G	ENST00000313143.3	+	7	983	c.735C>G	c.(733-735)ctC>ctG	p.L245L	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.L245L	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	245					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCATGTCACTCAACATCATCA	0.542000													12	29					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998264	115998264	+	Translation_Start_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:115998264G>C	ENST00000264363.2	-	0	607					NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAAAGTATGAGATGTTGCAAA	0.353000													3	6					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75065509	75065509	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:75065509A>G	ENST00000326665.5	-	11	1814	c.1596T>C	c.(1594-1596)gaT>gaC	p.D532D	C1orf173_ENST00000420661.2_Silent_p.D335D|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	532	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTTTTTTATCATCCAAAGGTG	0.393000													11	97					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730645	5730645	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:5730645G>C	ENST00000379965.3	+	8	1541	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	422	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.E422Q(1)		kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TAATGCTTTTGAGGACTCCTC	0.408000													14	58					0	0	1	0	0
KRR1	11103	broad.mit.edu	37	12	75905329	75905329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:75905329C>A	ENST00000229214.4	-	1	72	c.49G>T	c.(49-51)Gaa>Taa	p.E17*	KRR1_ENST00000438169.2_Nonsense_Mutation_p.E17*	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	17					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTACGAAATTCACTTTTTCCA	0.502000													8	92					2.17888e-05	2.31273e-05	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48349690	48349690	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:48349690G>C	ENST00000435803.1	+	24	9492	c.9468G>C	c.(9466-9468)ctG>ctC	p.L3156L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3156					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						TGTATTCTCTGATTGTGTTGC	0.502000													51	249					0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74328185	74328185	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:74328185C>G	ENST00000268059.6	+	8	2479	c.2383C>G	c.(2383-2385)Caa>Gaa	p.Q795E	PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.Q747E|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	85					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGAGGCCTCTCAAGTCCAAGT	0.622000			T	"""RARA, PAX5"""	"""APL, ALL"""								8	145					0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4442929	4442929	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:4442929C>T	ENST00000254718.4	-	26	4074	c.3768G>A	c.(3766-3768)caG>caA	p.Q1256Q	MYBBP1A_ENST00000381556.2_Silent_p.Q1256Q			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1256	Required for nuclear and nucleolar localization (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGACGGCTTCTGGTTTTTCT	0.612000													39	270					0	0	1	0	0
DYRK2	8445	broad.mit.edu	37	12	68052168	68052168	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:68052168G>C	ENST00000344096.3	+	3	1894	c.1481G>C	c.(1480-1482)aGa>aCa	p.R494T	DYRK2_ENST00000393555.3_Missense_Mutation_p.R421T	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	494	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		CCGGAGAGCAGAGAGTGGGGG	0.577000													9	117					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224681	55224681	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:55224681G>A	ENST00000371279.3	-	2	236	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	52					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CGGTCTTCCCGAAGGTTCTGT	0.607000													7	87					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825152	4825152	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:4825152C>G	ENST00000380382.1	-	1	695	c.696G>C	c.(694-696)ctG>ctC	p.L232L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Silent_p.L153L			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGCCCTCTCAGCATCACGA	0.572000													11	91					0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96332203	96332203	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:96332203C>G	ENST00000231368.5	+	7	2209	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C	LNPEP_ENST00000395770.3_Missense_Mutation_p.S492C	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	506					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AAAGAGCTTTCTAGTGTAAGT	0.353000													5	19					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74349819	74349819	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:74349819C>G	ENST00000377044.4	-	6	1835	c.1296G>C	c.(1294-1296)caG>caC	p.Q432H	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	432						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CGACCACAATCTGGTCTCCAG	0.443000													18	105					0	0	1	0	0
SFXN2	118980	broad.mit.edu	37	10	104486864	104486864	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:104486864C>G	ENST00000369893.5	+	3	449	c.282C>G	c.(280-282)ttC>ttG	p.F94L	SFXN2_ENST00000602785.1_3'UTR	NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GCATGTCTTTCCAGCTTCCTG	0.597000													20	25					0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395755	138395755	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:138395755G>A	ENST00000371785.1	+	5	876	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000241600.5_Missense_Mutation_p.V223M|MRPS2_ENST00000488610.1_3'UTR			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	223					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		AGTGGGCATCGTGGACACCAA	0.592000													10	112					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129910554	129910554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:129910554G>T	ENST00000222481.4	+	4	365	c.310G>T	c.(310-312)Gaa>Taa	p.E104*		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	104					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CAAAGAGAATGAAGAAATGCT	0.388000													7	61					3.09899e-07	3.35488e-07	1	1	0
CETN1	1068	broad.mit.edu	37	18	580696	580696	+	Missense_Mutation	SNP	G	G	T	rs114552098	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:580696G>T	ENST00000327228.3	+	1	330	c.288G>T	c.(286-288)aaG>aaT	p.K96N		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	96	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	p.K96K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGACGCAGAAGATGTCCGAGA	0.507000													10	111					2.17888e-05	2.31273e-05	1	1	0
HORMAD1	84072	broad.mit.edu	37	1	150689730	150689730	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150689730G>C	ENST00000368993.2	-	3	167	c.62C>G	c.(61-63)tCa>tGa	p.S21*	HORMAD1_ENST00000361824.2_Nonsense_Mutation_p.S21*|HORMAD1_ENST00000368995.4_De_novo_Start_InFrame|HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.S21*|HORMAD1_ENST00000476530.1_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1	21					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTTCAGTTGATATCTTATT	0.343000													13	191					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850414	182850414	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:182850414C>G	ENST00000367549.3	+	23	2750	c.2640C>G	c.(2638-2640)atC>atG	p.I880M	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	880					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GAGATGCTATCTGTACCATTG	0.463000													21	122					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114188098	114188098	+	Missense_Mutation	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:114188098T>G	ENST00000259335.4	-	12	1594	c.1595A>C	c.(1594-1596)gAt>gCt	p.D532A	KIAA0368_ENST00000338205.5_Missense_Mutation_p.D354A	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAAAAGTCCATCATACACCAC	0.269000													11	68					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155649629	155649629	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:155649629C>T	ENST00000496455.2	+	13	1971	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	GMPS_ENST00000295920.7_Silent_p.L447L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase						glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTTATTTTTCTGGCTAGGCT	0.423000			T	MLL	AML								9	137					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9256539	9256539	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:9256539G>T	ENST00000262126.4	+	9	3514	c.3274G>T	c.(3274-3276)Gaa>Taa	p.E1092*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.E1069*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.E1069*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				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						CCTAGAAATAGAACAGTGGCA	0.318000													26	189					4.26978e-12	4.73432e-12	1	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150526928	150526928	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150526928G>C	ENST00000271643.4	+	7	1455	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.E407Q|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.E407Q|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.E407Q	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	407					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTATCAGTGGGAGCCCTTCAC	0.622000													10	47					0	0	1	0	0
PIN4	5303	broad.mit.edu	37	X	71401593	71401593	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:71401593A>G	ENST00000218432.5	+	1	68	c.33A>G	c.(31-33)gtA>gtG	p.V11V	PIN4_ENST00000423432.2_Silent_p.V11V|PIN4_ENST00000373669.2_Silent_p.V11V			Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	0	Necessary for association with the pre- rRNP complexes.|Necessary for nuclear localization and DNA-binding.				protein folding|rRNA processing	cytoplasm|mitochondrial matrix|nucleolus|preribosome|spindle	bent DNA binding|DNA binding|double-stranded DNA binding|peptidyl-prolyl cis-trans isomerase activity			large_intestine(1)|lung(2)	3	Renal(35;0.156)					AGGGGCTTGTACGGCAACTGG	0.542000													9	37					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113330987	113330987	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:113330987C>G	ENST00000264852.4	+	19	2638	c.1912C>G	c.(1912-1914)Ctg>Gtg	p.L638V	SIDT1_ENST00000393830.3_Missense_Mutation_p.L638V|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	638						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AATCCACGTTCTGGCCTCGCT	0.418000													5	40					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396386	122396386	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:122396386G>C	ENST00000288912.4	+	12	2793	c.1939G>C	c.(1939-1941)Gag>Cag	p.E647Q	WDR66_ENST00000397454.2_Missense_Mutation_p.E647Q	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	647							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAGGGTTTTTGAGAAGGGGCT	0.478000													93	233					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82040459	82040459	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:82040459C>T	ENST00000372213.3	-	4	642	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	128					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CCCACATCCTCCTCATTTCTG	0.542000													28	80					0	0	1	0	0
RNASE1	6035	broad.mit.edu	37	14	21270057	21270057	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:21270057C>T	ENST00000397967.4	-	2	677	c.171G>A	c.(169-171)atG>atA	p.M57I	RNASE1_ENST00000412779.2_Missense_Mutation_p.M57I|RNASE1_ENST00000555698.1_Missense_Mutation_p.M17I|RNASE1_ENST00000340900.3_Missense_Mutation_p.M57I|RNASE1_ENST00000397970.4_Missense_Mutation_p.M57I	NM_002933.4	NP_002924.1	P07998	RNAS1_HUMAN	ribonuclease, RNase A family, 1 (pancreatic)	57						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		GGCGCCTCATCATTTGGTTAC	0.552000													8	75					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297734	62297734	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62297734C>T	ENST00000378024.4	-	5	4429	c.4155G>A	c.(4153-4155)gtG>gtA	p.V1385V	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1385					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGCATTTTCACCTTGGGCA	0.507000													103	219					0	0	1	0	0
PSMC6	5706	broad.mit.edu	37	14	53175094	53175094	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:53175094G>C	ENST00000445930.2	+	2	201	c.195G>C	c.(193-195)caG>caC	p.Q65H	PSMC6_ENST00000606149.1_Missense_Mutation_p.Q51H			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	51					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	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging	p.Q51Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					AGGCCCTACAGAGTGTTGGGC	0.343000													5	50					0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54278230	54278230	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:54278230G>A	ENST00000217515.6	-	7	1038	c.834C>T	c.(832-834)ttC>ttT	p.F278F	TXNL1_ENST00000590954.1_Silent_p.F278F|TXNL1_ENST00000540155.1_Silent_p.F155F	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	278	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTACTCGTTTGAAGTCATTCA	0.299000													6	31					0	0	1	0	0
DNAJC16	23341	broad.mit.edu	37	1	15888676	15888676	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:15888676G>T	ENST00000375847.3	+	9	1358	c.1194G>T	c.(1192-1194)ttG>ttT	p.L398F	DNAJC16_ENST00000375838.1_Missense_Mutation_p.L398F|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Missense_Mutation_p.L398F	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	398					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTACCAAGTTGAGCAAACCCT	0.468000													9	129					0.010729	0.0109472	1	1	0
PDLIM4	8572	broad.mit.edu	37	5	131607042	131607042	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:131607042G>C	ENST00000253754.3	+	5	617	c.553G>C	c.(553-555)Gac>Cac	p.D185H	PDLIM4_ENST00000379018.3_Missense_Mutation_p.D185H|PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron	NM_001131027.1|NM_003687.3	NP_001124499.1|NP_003678.2	P50479	PDLI4_HUMAN	PDZ and LIM domain 4	185							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGCAGAGTCGACCTGGGCTC	0.657000													4	33					0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85446609	85446609	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:85446609G>T	ENST00000369663.5	-	8	1955	c.1618C>A	c.(1618-1620)Ctg>Atg	p.L540M	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	540					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTGGCAGCCAGTTTGGGGGAT	0.502000													5	78					3.59834e-05	3.7993e-05	1	1	0
MYCBPAP	84073	broad.mit.edu	37	17	48603317	48603317	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:48603317G>A	ENST00000323776.5	+	14	2149	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.E626K	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	626					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CGCCAAGGCTGAGGAGGCCAG	0.597000													7	123					0	0	1	0	0
FHL1	2273	broad.mit.edu	37	X	135291436	135291436	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:135291436C>G	ENST00000394155.2	+	7	1052	c.723C>G	c.(721-723)gtC>gtG	p.V241V	FHL1_ENST00000539015.1_Intron|FHL1_ENST00000543669.1_Intron|FHL1_ENST00000345434.3_Silent_p.V241V|FHL1_ENST00000535737.1_Intron|FHL1_ENST00000370690.3_Intron|FHL1_ENST00000394153.2_Intron|FHL1_ENST00000370683.1_Intron|FHL1_ENST00000370676.3_Intron	NM_001159702.2	NP_001153174.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	241					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCACCCAGTCTCTAAAGCTA	0.557000											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	35					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840254	57840254	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:57840254G>C	ENST00000321545.4	+	4	1769	c.1424G>C	c.(1423-1425)gGa>gCa	p.G475A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCACACTGGAGAGAAACCC	0.493000													17	72					0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33657034	33657034	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:33657034C>T	ENST00000374316.5	+	51	7774	c.6714C>T	c.(6712-6714)ctC>ctT	p.L2238L	ITPR3_ENST00000605930.1_Silent_p.L2238L			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2238					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACTCCCCTCTCATCTCATTGC	0.647000													20	113					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6042206	6042206	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:6042206G>A	ENST00000265849.7	-	5	520	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	PMS2_ENST00000382321.4_Missense_Mutation_p.H139Y|PMS2_ENST00000406569.3_Missense_Mutation_p.H139Y|PMS2_ENST00000441476.2_Missense_Mutation_p.H33Y|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	139					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTCCCATTGTGATCAAACATC	0.517000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				29	98					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11659906	11659906	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:11659906G>C	ENST00000262442.4	+	34	6828	c.6760G>C	c.(6760-6762)Gag>Cag	p.E2254Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.E2254Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCCAGCAATGAGAGGATTCC	0.562000													38	162					0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144068278	144068278	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:144068278G>C	ENST00000056217.5	+	6	3730	c.3556G>C	c.(3556-3558)Gag>Cag	p.E1186Q	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.E108Q	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1186	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GATTGTGTCAGAGGCCTCCTA	0.458000													11	165					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111878366	111878366	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:111878366G>C	ENST00000277900.8	+	6	954	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.E197Q|ADD3_ENST00000356080.4_Missense_Mutation_p.E197Q	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	197						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TATAATAGGAGAAGTGGTTGA	0.388000													4	42					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28143379	28143379	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:28143379C>G	ENST00000316334.3	-	3	571	c.442G>C	c.(442-444)Gag>Cag	p.E148Q		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	148							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		TTCCTTCTCTCCAGGGCAACT	0.408000													32	203					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20215087	20215087	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:20215087C>G	ENST00000418063.2	+	2	155	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	15	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						AGAATTCTCTCTGGAGGAGTG	0.428000													5	78					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32088214	32088214	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:32088214G>A	ENST00000438447.1	+	20	5048	c.4660G>A	c.(4660-4662)Gat>Aat	p.D1554N	PDZD2_ENST00000282493.3_Missense_Mutation_p.D1554N			O15018	PDZD2_HUMAN	PDZ domain containing 2	1554					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.D1554N(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATGTATGGCGATGCTGAGGA	0.542000													43	63					0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26890457	26890457	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:26890457G>A	ENST00000308360.7	-	5	835	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	PIGS_ENST00000395346.2_Missense_Mutation_p.L146F|PIGS_ENST00000543734.1_Missense_Mutation_p.L93F|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	154					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACCTGGGGAAGAAGTGAGGAG	0.532000													7	98					0	0	1	0	0
RMND1	55005	broad.mit.edu	37	6	151766453	151766453	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:151766453G>C	ENST00000367303.4	-	2	616	c.494C>G	c.(493-495)tCt>tGt	p.S165C	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	165										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCGTTCACAGACAGAACTGG	0.517000													4	34					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815653	23815653	+	Missense_Mutation	SNP	T	T	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:23815653T>A	ENST00000264867.2	-	8	1572	c.1453A>T	c.(1453-1455)Agg>Tgg	p.R485W	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	485					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCACTGTCCCTCAGTTCACCG	0.463000													4	99					0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	64011632	64011632	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:64011632G>A	ENST00000371088.4	+	7	1096	c.850G>A	c.(850-852)Gat>Aat	p.D284N		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	284							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CTTAGAAGAAGATGGTGAAAT	0.343000													4	68					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826583	13826583	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:13826583C>A	ENST00000324750.3	+	1	1041	c.819C>A	c.(817-819)ttC>ttA	p.F273L		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	273					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			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						GCTCTCGCTTCATGTCTCACT	0.488000													15	315					0.000566183	0.000589925	1	1	0
FCN2	2220	broad.mit.edu	37	9	137779144	137779144	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:137779144G>C	ENST00000350339.2	+	7	725	c.711G>C	c.(709-711)ctG>ctC	p.L237L	FCN2_ENST00000291744.6_Silent_p.L275L	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	275	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TGTCAAACCTGAATGGTCGCT	0.473000													23	39					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933206	150933206	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150933206G>C	ENST00000271640.5	+	16	2858	c.2668G>C	c.(2668-2670)Gat>Cat	p.D890H	SETDB1_ENST00000368969.4_Missense_Mutation_p.D890H|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	890	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACCAGGAAGATGGCAACAG	0.498000													20	185					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030222	3030222	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:3030222G>T	ENST00000328890.2	-	1	653	c.624C>A	c.(622-624)ctC>ctA	p.L208L		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GCACACAAATGAGTCCTGTGA	0.507000													30	74					2.65835e-16	2.98178e-16	1	1	0
UTP3	57050	broad.mit.edu	37	4	71555249	71555249	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:71555249G>T	ENST00000254803.2	+	1	1054	c.855G>T	c.(853-855)ctG>ctT	p.L285L		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	285					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ATTTGATCCTGAAAGCTAGGA	0.433000													7	150					0.00307968	0.00315961	1	1	0
C14orf105	55195	broad.mit.edu	37	14	57948369	57948369	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:57948369C>G	ENST00000216445.3	-	4	539	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q	C14orf105_ENST00000422976.2_Missense_Mutation_p.E134Q|C14orf105_ENST00000534126.1_Missense_Mutation_p.E134Q	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	135										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						ATTTTCTTTTCTAGTACCTGC	0.353000													6	36					0	0	1	0	0
GLT8D2	83468	broad.mit.edu	37	12	104390542	104390542	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:104390542G>C	ENST00000360814.4	-	8	976	c.571C>G	c.(571-573)Cag>Gag	p.Q191E	GLT8D2_ENST00000546436.1_Missense_Mutation_p.Q191E|GLT8D2_ENST00000548660.1_Missense_Mutation_p.Q191E	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	191						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TTTATGTCCTGAGCAGAGGGC	0.532000													7	105					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67872374	67872374	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:67872374C>T	ENST00000255674.6	-	2	495	c.209G>A	c.(208-210)aGa>aAa	p.R70K	RTTN_ENST00000437017.1_Missense_Mutation_p.R70K|RTTN_ENST00000454359.1_Missense_Mutation_p.R70K	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	70							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTAACCAATCTGCTTAACAG	0.363000													20	32					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201755642	201755642	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:201755642G>A	ENST00000367296.4	+	9	3352	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	NAV1_ENST00000367295.1_Missense_Mutation_p.E587K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367297.4_Missense_Mutation_p.E978K|NAV1_ENST00000367302.1_Missense_Mutation_p.E991K|NAV1_ENST00000367300.3_Missense_Mutation_p.E978K|NAV1_ENST00000295624.6_Missense_Mutation_p.E978K|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	978					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGACCAGTCAGAGCTGCCTTC	0.542000													45	95					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73981625	73981625	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:73981625C>T	ENST00000358602.4	-	23	4313	c.4197G>A	c.(4195-4197)gtG>gtA	p.V1399V	ANKRD17_ENST00000330838.6_Silent_p.V1148V|ANKRD17_ENST00000509867.2_Silent_p.V1286V|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1399					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCACCACCTTCACATGACCCT	0.353000													5	260					0	0	1	0	0
KCNJ6	3763	broad.mit.edu	37	21	38997769	38997769	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:38997769G>C	ENST00000609713.1	-	4	1553	c.964C>G	c.(964-966)Cga>Gga	p.R322G	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322G	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TAGGAGCTTCGAGCTTGGCAT	0.527000													7	51					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511529	169511529	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:169511529G>T	ENST00000367796.3	-	13	3015	c.2814C>A	c.(2812-2814)ctC>ctA	p.L938L	F5_ENST00000367797.3_Silent_p.L933L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	933	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTGTTTTAAGAGTAACAGAT	0.463000													11	178					0.0692343	0.0700125	1	1	0
RPS6KB1	6198	broad.mit.edu	37	17	57990070	57990070	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:57990070G>A	ENST00000225577.4	+	3	238	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E73K|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.E20K|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E73K	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	73					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGAGAAATTTGAAATCTCAGA	0.373000													26	133					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45014788	45014788	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:45014788G>T	ENST00000258787.7	-	5	739	c.603C>A	c.(601-603)ttC>ttA	p.F201L		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	201	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						AGAAGGCGTGGAAGTTTCTTT	0.597000													14	348					0.00185496	0.00191212	1	1	0
TSACC	128229	broad.mit.edu	37	1	156316657	156316657	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156316657G>T	ENST00000368255.3	+	4	622	c.262G>T	c.(262-264)Gaa>Taa	p.E88*	TSACC_ENST00000470342.1_Missense_Mutation_p.G84V|TSACC_ENST00000368253.2_Nonsense_Mutation_p.E88*|TSACC_ENST00000368252.1_Nonsense_Mutation_p.E88*|TSACC_ENST00000368251.1_Nonsense_Mutation_p.E88*|TSACC_ENST00000368254.1_Nonsense_Mutation_p.E88*|TSACC_ENST00000466306.1_Missense_Mutation_p.G84V|TSACC_ENST00000481479.1_Missense_Mutation_p.G84V	NM_144627.3	NP_653228.1			TSSK6 activating co-chaperone																		GGCTGTTTTGGAACATTTACA	0.488000													19	262					2.94398e-08	3.20838e-08	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18250605	18250605	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:18250605C>T	ENST00000377369.2	+	3	630	c.357C>T	c.(355-357)ctC>ctT	p.L119L	SLC39A12_ENST00000539911.1_5'UTR|SLC39A12_ENST00000377374.4_Silent_p.L119L|SLC39A12_ENST00000377371.3_Silent_p.L119L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	119	Poly-Leu.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCTCCTTCTCTATTACATTA	0.393000													6	67					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	17035717	17035717	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:17035717G>C	ENST00000355661.3	-	2	128	c.118C>G	c.(118-120)Ccg>Gcg	p.P40A	PLEKHA7_ENST00000532079.1_Missense_Mutation_p.I18M|OR7E14P_ENST00000530490.1_RNA|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P40A|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P40A			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	40	WW 1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CCGGTGCGCGGATGCAGCCAG	0.771000													3	36					0	0	1	0	0
SLTM	79811	broad.mit.edu	37	15	59186676	59186676	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:59186676G>C	ENST00000380516.2	-	10	1420	c.1333C>G	c.(1333-1335)Ctt>Gtt	p.L445V	SLTM_ENST00000536328.1_Missense_Mutation_p.L14V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	445	RRM.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTGCGATGAAGATGTGCAATA	0.423000													27	79					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120054176	120054176	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:120054176G>A	ENST00000235547.6	+	3	341	c.202G>A	c.(202-204)Gag>Aag	p.E68K	HSD3B1_ENST00000369413.3_Missense_Mutation_p.E66K|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E66K	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	66					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CATTCTGGATGAGCCATTCCT	0.493000													6	64					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692257	49692257	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49692257G>C	ENST00000296452.4	+	5	5382	c.5268G>C	c.(5266-5268)caG>caC	p.Q1756H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1756					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCCCTACCAGAGCCGCCTTG	0.587000													19	180					0	0	1	0	0
EREG	2069	broad.mit.edu	37	4	75250497	75250497	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:75250497C>G	ENST00000244869.2	+	5	648	c.482C>G	c.(481-483)tCa>tGa	p.S161*	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	161					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity	p.S161L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			AGAGTTACCTCAGGGGATCCA	0.388000													6	117					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	27184432	27184432	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:27184432C>T	ENST00000541819.2	-	1	254	c.152G>A	c.(151-153)gGa>gAa	p.G51E	GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000355395.5_Intron|GABRA5_ENST00000400081.3_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGGGAGGTCTCCTCGTGCCTC	0.587000													14	107					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491507	58491507	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58491507C>A	ENST00000341164.4	-	7	1161	c.541G>T	c.(541-543)Gac>Tac	p.D181Y	ZNF606_ENST00000536132.1_Missense_Mutation_p.D91Y	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TCTAATTGGTCTTTACATCCC	0.413000													34	53					6.53348e-20	7.35368e-20	1	1	0
CCNT2	905	broad.mit.edu	37	2	135712068	135712068	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:135712068C>T	ENST00000295238.6	+	10	1972	c.1942C>T	c.(1942-1944)Cag>Tag	p.Q648*	CCNT2_ENST00000264157.5_Silent_p.L681L|CCNT2_ENST00000537343.1_Nonsense_Mutation_p.Q473*			O60583	CCNT2_HUMAN	cyclin T2	0	Poly-Ser.				cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACGGACATCTCAGCACCCTCG	0.507000													5	45					0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19654834	19654834	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:19654834C>G	ENST00000586018.1	+	8	1600	c.1498C>G	c.(1498-1500)Ctg>Gtg	p.L500V	CILP2_ENST00000291495.5_Missense_Mutation_p.L494V			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	494						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCAGGATTCTGCTGGGCCA	0.672000													8	39					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20130164	20130164	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:20130164C>T	ENST00000345530.3	-	26	3262	c.3147G>A	c.(3145-3147)ctG>ctA	p.L1049L	WDR35_ENST00000416055.2_Silent_p.L522L|WDR35_ENST00000281405.4_Silent_p.L1038L	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1049										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCTTCAGTGCAGTGT	0.438000													46	195					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057443	152057443	+	Nonstop_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152057443T>C	ENST00000368806.1	-	3	2779	c.2715A>G	c.(2713-2715)tgA>tgG	p.*905W		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	0							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TGATAATGATTCATTGCTTTG	0.453000													9	131					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77807357	77807357	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:77807357C>G	ENST00000407578.2	-	18	2937	c.2671G>C	c.(2671-2673)Gaa>Caa	p.E891Q	MYCBP2_ENST00000357337.6_Missense_Mutation_p.E853Q|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E853Q|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGAGCCTGTTCTCGATGGTTC	0.423000													6	105					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	T	rs121913468		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37880261G>T	ENST00000406381.2	+	21	2725	c.2215G>T	c.(2215-2217)Gac>Tac	p.D739Y	ERBB2_ENST00000269571.5_Missense_Mutation_p.D769Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.D769Y|ERBB2_ENST00000541774.1_Missense_Mutation_p.D754Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.D739Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D739Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.D493Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	769	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	p.D769H(2)		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)	AGAAATCTTAGACGTAAGCCC	0.532000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			29	34					4.87955e-14	5.45214e-14	1	1	0
BTN2A1	11120	broad.mit.edu	37	6	26468645	26468645	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:26468645G>A	ENST00000312541.5	+	8	1700	c.1452G>A	c.(1450-1452)gtG>gtA	p.V484V	BTN2A1_ENST00000429381.1_3'UTR|BTN2A1_ENST00000541522.1_Silent_p.V423V|BTN2A1_ENST00000469185.1_Intron	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	484	B30.2/SPRY.				lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCGTGCCTGTGAGGCCCTTCT	0.567000													14	101					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187679	100187679	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:100187679A>G	ENST00000241071.6	+	2	441	c.119A>G	c.(118-120)cAg>cGg	p.Q40R	FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000360609.2_Missense_Mutation_p.Q40R|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.Q40R|FBXO24_ENST00000468962.1_Missense_Mutation_p.Q28R|FBXO24_ENST00000427939.2_Missense_Mutation_p.Q78R	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	40	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ATTTCCATCCAGTTGTTCCCC	0.557000													5	81					0	0	1	0	0
RP11-1407O15.2	0	broad.mit.edu	37	17	36352524	36352524	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:36352524G>A	ENST00000312412.4	-	11	1262	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V	RP11-1407O15.2_ENST00000544906.1_Silent_p.V266V|TBC1D3_ENST00000537432.1_5'UTR																kidney(1)|lung(3)	4						GGCCCACACTGACCTGGCAGA	0.418000													11	11					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41759238	41759238	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:41759238C>G	ENST00000301831.4	-	23	2899	c.2437G>C	c.(2437-2439)Gag>Cag	p.E813Q		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	813							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGTGGCAGCTCCTGCACAATG	0.468000													6	73					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144865846	144865846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:144865846G>A	ENST00000369359.4	-	38	6180	c.6142C>T	c.(6142-6144)Cga>Tga	p.R2048*	PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1806*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1997*|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1912					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAGTCTTCGATTGTCTTCC	0.478000			T	PDGFRB	MPD								9	219					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640581	3640581	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3640581G>C	ENST00000294008.3	-	12	3698	c.3058C>G	c.(3058-3060)Cat>Gat	p.H1020D		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1020	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCCAGGCGATGAGAAACCTCC	0.617000								Direct reversal of damage					4	71					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	204037541	204037541	+	Silent	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:204037541A>T	ENST00000449802.1	+	40	6534	c.6201A>T	c.(6199-6201)gtA>gtT	p.V2067V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2067	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CAATTGGGGTAGTTAATGAAA	0.333000													6	61					0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171392322	171392322	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:171392322G>C	ENST00000356327.5	-	18	2153	c.2083C>G	c.(2083-2085)Caa>Gaa	p.Q695E	PLD1_ENST00000340989.4_Missense_Mutation_p.Q733E|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Missense_Mutation_p.Q733E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	733	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CCAGGCACTTGATATCTCAAC	0.368000													6	60					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20097875	20097875	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:20097875C>T	ENST00000294543.6	-	5	521	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	TMCO4_ENST00000375122.2_Missense_Mutation_p.E94K|TMCO4_ENST00000375127.1_Missense_Mutation_p.E94K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	94						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TCTGCTCCTTCACCTCCCAGG	0.547000													14	68					0	0	1	0	0
SLITRK2	84631	broad.mit.edu	37	X	144905810	144905810	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:144905810C>T	ENST00000370490.1	+	1	6122	c.1867C>T	c.(1867-1869)Ctg>Ttg	p.L623L	SLITRK2_ENST00000413937.2_Silent_p.L623L|SLITRK2_ENST00000447897.2_Silent_p.L623L|SLITRK2_ENST00000434188.2_Silent_p.L623L|SLITRK2_ENST00000428560.2_Silent_p.L623L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	623						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTTAATTCTGGGATTGCT	0.453000													9	61					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118373732	118373732	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:118373732G>C	ENST00000534358.1	+	27	7148	c.7125G>C	c.(7123-7125)ttG>ttC	p.L2375F	KMT2A_ENST00000354520.4_Missense_Mutation_p.L2334F|KMT2A_ENST00000389506.5_Missense_Mutation_p.L2372F	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ACCTCCATTTGAGAGGGCAAA	0.448000													6	63					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992579	96992579	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:96992579G>T	ENST00000361124.4	+	1	645	c.234G>T	c.(232-234)caG>caT	p.Q78H	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q62H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q62H|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q70H	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	70						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCAGAGGCAGAAGGCAGAGA	0.572000													15	79					2.61681e-11	2.89169e-11	1	1	0
RHCG	51458	broad.mit.edu	37	15	90020415	90020415	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:90020415G>C	ENST00000268122.4	-	8	1203	c.1135C>G	c.(1135-1137)Caa>Gaa	p.Q379E	RHCG_ENST00000544600.1_Missense_Mutation_p.Q379E	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	379					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					TTGAAACCTTGAAAGTCAAAG	0.552000													36	33					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2153294	2153294	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:2153294G>T	ENST00000262304.4	-	23	8972	c.8764C>A	c.(8764-8766)Ctg>Atg	p.L2922M	PKD1_ENST00000423118.1_Missense_Mutation_p.L2922M	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2922					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGAGCTGCAGATGCAGCCCG	0.672000													5	50					0.000602214	0.000624971	1	1	0
COL6A1	1291	broad.mit.edu	37	21	47423499	47423499	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:47423499G>C	ENST00000361866.3	+	35	2773	c.2659G>C	c.(2659-2661)Gag>Cag	p.E887Q	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	887	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCAGCGCCCAGAGCGGGCGTC	0.692000													4	80					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27539998	27539998	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:27539998C>G	ENST00000356183.4	-	6	909	c.894G>C	c.(892-894)ctG>ctC	p.L298L	GTF3C1_ENST00000561623.1_Silent_p.L298L	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	298						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCCGGCGTTCAGCATATACT	0.473000													4	128					0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93530834	93530834	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:93530834G>T	ENST00000251871.3	+	8	1564	c.1277G>T	c.(1276-1278)gGg>gTg	p.G426V	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	426					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCAGTGAAGGGCTTCTGGAA	0.358000													6	41					0.00116845	0.00120541	1	1	0
RUSC1	23623	broad.mit.edu	37	1	155292068	155292068	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:155292068C>T	ENST00000368352.5	+	2	655	c.504C>T	c.(502-504)tcC>tcT	p.S168S	RUSC1_ENST00000368354.3_Silent_p.S168S|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	168						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATTCCTGCTCCGGAGCTTCTT	0.632000													12	143					0	0	1	0	0
AXIN2	8313	broad.mit.edu	37	17	63526171	63526171	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:63526171C>G	ENST00000307078.5	-	11	2768	c.2455G>C	c.(2455-2457)Gag>Cag	p.E819Q	AXIN2_ENST00000375702.5_Missense_Mutation_p.E754Q	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	819	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CAGATCTCCTCAAACACCGCT	0.483000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				9	191					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150923333	150923333	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150923333G>C	ENST00000271640.5	+	13	2170	c.1980G>C	c.(1978-1980)ttG>ttC	p.L660F	SETDB1_ENST00000368969.4_Missense_Mutation_p.L660F|SETDB1_ENST00000459773.1_Intron	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	660	MBD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGTTCTGTTTGGATCCATATG	0.448000													8	214					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121230866	121230866	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:121230866G>C	ENST00000264233.5	-	10	1607	c.1479C>G	c.(1477-1479)atC>atG	p.I493M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	493	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.I628I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TACAAATTAAGATACTCTCGC	0.378000								DNA polymerases (catalytic subunits)					9	47					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978931	107978931	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:107978931C>G	ENST00000372129.2	-	1	720	c.644G>C	c.(643-645)gGa>gCa	p.G215A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	215			G -> E (in a colorectal cancer sample; somatic mutation).			plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G215E(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GGCCGGCTCTCCGTCCGGCTG	0.667000													9	11					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876807	39876807	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39876807C>T	ENST00000530275.1	+	1	657	c.462C>T	c.(460-462)ctC>ctT	p.L154L	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	154										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCCACCTCTCTCCCCTTGCC	0.527000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	72					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326758	61326758	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:61326758C>T	ENST00000283752.5	-	4	369	c.226G>A	c.(226-228)Gat>Aat	p.D76N	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.D76N	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	76					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCTGACCTATCAACCTTCAAA	0.393000													18	25					0	0	1	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26881119	26881119	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:26881119G>A	ENST00000374168.2	+	9	800	c.646G>A	c.(646-648)Gag>Aag	p.E216K	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E225K|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E216K|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E124K|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E124K|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E200K	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	216	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CATTGACCACGAGAAGAAGGC	0.587000													21	252					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73990762	73990762	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:73990762G>C	ENST00000358602.4	-	18	3476	c.3360C>G	c.(3358-3360)ctC>ctG	p.L1120L	ANKRD17_ENST00000330838.6_Silent_p.L869L|ANKRD17_ENST00000509867.2_Silent_p.L1007L|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1120					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGCCAAGATGAGTGGAGTAA	0.403000													10	209					0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92099350	92099350	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:92099350C>G	ENST00000493463.2	-	1	1269	c.346G>C	c.(346-348)Gat>Cat	p.D116H	ERVW-1_ENST00000603053.1_Missense_Mutation_p.D116H|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000604270.1_Intron	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		116					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ccacccccatcagacatacca	0.443000													3	40					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56190131	56190131	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:56190131C>G	ENST00000411543.2	+	3	1018	c.471C>G	c.(469-471)ctC>ctG	p.L157L	EPN1_ENST00000085079.7_Silent_p.L46L|EPN1_ENST00000270460.6_Silent_p.L46L	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	46					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TTGCCGACCTCACCTACAACG	0.557000													10	30					0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155294966	155294966	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:155294966G>A	ENST00000368352.5	+	4	1681	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q	RUSC1_ENST00000368354.3_Silent_p.Q510Q|RUSC1_ENST00000292254.4_Silent_p.Q41Q|RUSC1_ENST00000368347.4_Silent_p.Q100Q|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Silent_p.Q41Q	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	510						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ACTTGGTGCAGAAGGTGAAGG	0.612000											OREG0013860	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	231					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61415238	61415238	+	Nonstop_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:61415238C>G	ENST00000398571.2	-	80	10716	c.10640G>C	c.(10639-10641)tGa>tCa	p.*3547S	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	0					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CACCTAATGTCAAGAAGCAGC	0.418000													3	57					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34924456	34924456	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:34924456A>G	ENST00000356577.4	+	3	3394	c.2919A>G	c.(2917-2919)gcA>gcG	p.A973A	SON_ENST00000381679.4_Silent_p.A973A|SON_ENST00000290239.6_Silent_p.A973A|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.A973A	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	973	11 X 7 AA tandem repeats of [DR]-P-Y-R- [LI][AG][QHP].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACAGGATAGCACCCAGGTCCT	0.468000													15	116					0	0	1	0	0
SSH3	54961	broad.mit.edu	37	11	67074848	67074848	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:67074848C>T	ENST00000308127.4	+	6	721	c.543C>T	c.(541-543)ttC>ttT	p.F181F	SSH3_ENST00000376757.5_Silent_p.F181F|SSH3_ENST00000308298.7_Silent_p.F181F|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	181					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAGGGGCTTCAGCGTGACGT	0.597000													7	28					0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56104065	56104065	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:56104065C>G	ENST00000416613.1	+	10	1771	c.1699C>G	c.(1699-1701)Cta>Gta	p.L567V	KTN1_ENST00000395308.1_Missense_Mutation_p.L567V|KTN1_ENST00000395314.3_Missense_Mutation_p.L567V|KTN1_ENST00000395311.1_Missense_Mutation_p.L567V|KTN1_ENST00000395309.3_Missense_Mutation_p.L567V|KTN1_ENST00000438792.2_Missense_Mutation_p.L567V|KTN1_ENST00000413890.2_Missense_Mutation_p.L567V			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	567					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGAAGAGTCTCTACAAATGCA	0.343000			T	RET	papillary thryoid								7	43					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88862531	88862531	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:88862531G>T	ENST00000556553.1	+	4	685	c.126G>T	c.(124-126)gtG>gtT	p.V42V	SPATA7_ENST00000356583.5_Silent_p.V42V|SPATA7_ENST00000554102.1_3'UTR|SPATA7_ENST00000045347.7_Silent_p.V74V|SPATA7_ENST00000393545.4_Silent_p.V74V			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	74					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CAGTAAGCGTGAGTACCAGCA	0.284000													9	17					4.68919e-08	5.10179e-08	1	1	0
KCNJ2	3759	broad.mit.edu	37	17	68172450	68172450	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:68172450G>A	ENST00000243457.3	+	2	1653	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E424K	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	424					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CTTACGGCGAGAGTCGGAGAT	0.493000													20	198					0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18549883	18549883	+	Silent	SNP	C	C	T	rs140197359	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:18549883C>T	ENST00000330537.6	-	11	1355	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P	NOMO2_ENST00000543392.1_Silent_p.P228P|NOMO2_ENST00000381474.3_Silent_p.P395P	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	395						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						GAGGTGTGTTCGGTGCAATTT	0.473000													4	137					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406749	55406749	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:55406749C>T	ENST00000314612.2	+	1	916	c.916C>T	c.(916-918)Ctg>Ttg	p.L306L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCAAATACTCCTGAAAAGAAA	0.398000													7	58					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109898553	109898553	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:109898553C>T	ENST00000228495.6	-	3	556	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000540411.1_Missense_Mutation_p.R89Q	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	92	BTB.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CGCCCCGTCTCGAAGGTAGTT	0.602000													36	58					0	0	1	0	0
OR13C2	392376	broad.mit.edu	37	9	107367387	107367387	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:107367387G>A	ENST00000542196.1	-	1	564	c.522C>T	c.(520-522)atC>atT	p.I174I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGAAATGATTGATGATGTTAT	0.438000													13	153					0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1756890	1756890	+	Translation_Start_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:1756890C>G	ENST00000378609.4	-	3	334	c.3G>C	c.(1-3)atG>atC	p.M1I	GNB1_ENST00000472614.2_5'UTR	NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	1					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CAAGCTCACTCATCTTCCGAT	0.398000													38	244					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40132507	40132507	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:40132507C>G	ENST00000181839.4	+	13	3964	c.3359C>G	c.(3358-3360)tCt>tGt	p.S1120C	CDK13_ENST00000340829.5_Intron	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1120					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGGTAAACTCTGAGACTCAA	0.373000													5	110					0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242432839	242432839	+	Missense_Mutation	SNP	G	G	C	rs137904208		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:242432839G>C	ENST00000264042.3	+	26	3197	c.3027G>C	c.(3025-3027)gaG>gaC	p.E1009D	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1009	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TCCGGGCTGAGAGCAAGTACA	0.522000													12	40					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45774876	45774876	+	Nonsense_Mutation	SNP	C	C	G	rs151153987		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:45774876C>G	ENST00000300843.4	+	8	993	c.696C>G	c.(694-696)taC>taG	p.Y232*	MARK4_ENST00000262891.4_Nonsense_Mutation_p.Y232*	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	232	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCAAGAAGTACGACGGGCCGG	0.622000													8	201					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89923098	89923098	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:89923098C>T	ENST00000405460.2	+	7	839	c.743C>T	c.(742-744)tCt>tTt	p.S248F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	248					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTAACACCTCTAGGAATTCC	0.343000													4	34					0	0	1	0	0
SAMD1	90378	broad.mit.edu	37	19	14199286	14199286	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:14199286G>A	ENST00000533683.2	-	5	1529	c.1242C>T	c.(1240-1242)atC>atT	p.I414I		NM_138352.1	NP_612361	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	520						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GAAGCACCTTGATGTGGTGCT	0.592000													7	94					0	0	1	0	0
AGTR2	186	broad.mit.edu	37	X	115303994	115303994	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:115303994G>T	ENST00000371906.4	+	3	651	c.461G>T	c.(460-462)aGa>aTa	p.R154I		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	154					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CTGTCTCAAAGAAGAAATCCC	0.403000													118	10					3.99156e-37	4.52388e-37	1	1	0
HES6	55502	broad.mit.edu	37	2	239147873	239147873	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:239147873C>T	ENST00000409160.3	-	3	637	c.505G>A	c.(505-507)Gga>Aga	p.G169R	HES6_ENST00000409182.1_Silent_p.A61A|HES6_ENST00000409002.3_Silent_p.A88A|HES6_ENST00000272937.5_Silent_p.A90A|HES6_ENST00000409356.1_3'UTR|HES6_ENST00000409574.1_Missense_Mutation_p.R77Q|AC096574.4_ENST00000456601.1_RNA	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	0					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGCTCGCTTCCGCCTGCAGCT	0.731000													14	24					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1482058	1482058	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:1482058C>G	ENST00000297508.7	-	7	1656	c.1481G>C	c.(1480-1482)aGt>aCt	p.S494T	MICALL2_ENST00000405088.4_Missense_Mutation_p.S282T	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	494						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGCTAAGGGACTTGCTTGTGG	0.602000													15	300					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658761	3658761	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3658761C>A	ENST00000294008.3	-	2	845	c.205G>T	c.(205-207)Gaa>Taa	p.E69*		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	69	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CCTGACACTTCCTTGATTCCA	0.418000								Direct reversal of damage					6	63					0.00198382	0.00203771	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151848063	151848063	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:151848063C>G	ENST00000355193.2	-	52	13085	c.12867G>C	c.(12865-12867)gaG>gaC	p.E4289D	KMT2C_ENST00000262189.6_Missense_Mutation_p.E4232D					lysine (K)-specific methyltransferase 2C																		CAATGTCCTTCTCTACCCTCT	0.358000													6	75					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056180	26056180	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:26056180C>G	ENST00000343677.2	-	1	519	c.477G>C	c.(475-477)aaG>aaC	p.K159N		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	159					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGGCCGGCTTCTTCGCTTTCT	0.562000													7	154					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7388152	7388152	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:7388152C>G	ENST00000322644.6	+	1	468	c.69C>G	c.(67-69)ttC>ttG	p.F23L	POLR2A_ENST00000572844.1_Missense_Mutation_p.F23L	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	23					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GAGTCCAGTTCGGAGTCCTGA	0.716000													9	6					0	0	1	0	0
PRRG1	5638	broad.mit.edu	37	X	37312430	37312430	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:37312430G>A	ENST00000542554.1	+	5	485	c.213G>A	c.(211-213)gaG>gaA	p.E71E	PRRG1_ENST00000449135.2_Silent_p.E71E|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Silent_p.E71E|PRRG1_ENST00000378628.4_Silent_p.E71E|PRRG1_ENST00000491253.1_3'UTR	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	71						extracellular region|integral to plasma membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AACAAGGGGAGAGTAACCGAG	0.373000													4	48					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5225743	5225743	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:5225743C>G	ENST00000372412.4	-	17	2725	c.2492G>C	c.(2491-2493)gGa>gCa	p.G831A	PTPRS_ENST00000348075.2_Missense_Mutation_p.G808A|PTPRS_ENST00000587303.1_Missense_Mutation_p.G830A|PTPRS_ENST00000262963.6_Missense_Mutation_p.G826A|PTPRS_ENST00000357368.4_Missense_Mutation_p.G830A|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588012.1_Missense_Mutation_p.G808A			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	830					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CATACCTGCTCCCTTGGTCAC	0.617000													4	53					0	0	1	0	0
TMEM39B	55116	broad.mit.edu	37	1	32568163	32568163	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:32568163C>G	ENST00000336294.5	+	9	1514	c.1368C>G	c.(1366-1368)ctC>ctG	p.L456L	TMEM39B_ENST00000373634.4_Silent_p.L257L|TMEM39B_ENST00000487305.1_3'UTR	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	456						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCCTCATCCTCTTCAGCAACT	0.557000													5	60					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284623	52284623	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:52284623C>G	ENST00000301190.6	+	5	1120	c.893C>G	c.(892-894)tCt>tGt	p.S298C	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.S173C|ANKRD33_ENST00000538991.1_Missense_Mutation_p.S104C	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	173										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		TTTGCCCCGTCTCCTCAGGAG	0.657000													4	43					0	0	1	0	0
GH2	2689	broad.mit.edu	37	17	61958876	61958876	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:61958876G>C	ENST00000332800.7	-	2	147	c.14C>G	c.(13-15)tCc>tGc	p.S5C	GH2_ENST00000423893.2_Missense_Mutation_p.S5C|GH2_ENST00000456543.2_Missense_Mutation_p.S5C|GH2_ENST00000449787.2_Missense_Mutation_p.S5C	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	5						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GGACGTCCGGGAGCCTGGGGA	0.577000													9	318					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62257145	62257145	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:62257145G>A	ENST00000474889.1	+	21	3474	c.3097G>A	c.(3097-3099)Gag>Aag	p.E1033K	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.E1004K|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1033	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGGAGTTCCCGAGTATGCCCT	0.522000													23	46					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24583382	24583382	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:24583382G>C	ENST00000319715.4	+	18	5427	c.4995G>C	c.(4993-4995)ctG>ctC	p.L1665L	RBBP6_ENST00000381039.3_Silent_p.L825L|RBBP6_ENST00000348022.2_Silent_p.L1631L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1665					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTAAGGACCTGAAAGATAAAA	0.438000													5	76					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88052326	88052326	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:88052326C>T	ENST00000307808.6	+	16	3455	c.3035C>T	c.(3034-3036)tCc>tTc	p.S1012F	AFF1_ENST00000544085.1_Missense_Mutation_p.S650F|AFF1_ENST00000395146.4_Missense_Mutation_p.S1019F	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1012						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCAGTCATCCAAGTCAGCT	0.458000													8	247					0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140698870	140698870	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140698870C>G	ENST00000313368.5	-	1	1460	c.742G>C	c.(742-744)Gac>Cac	p.D248H		NM_005642.2	NP_005633.2	Q15545	TAF7_HUMAN	TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa	248					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTCCGTGTCAATGATGTTT	0.438000													6	103					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301211	191301211	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:191301211C>G	ENST00000392328.1	+	3	780	c.456C>G	c.(454-456)gtC>gtG	p.V152V	MFSD6_ENST00000281416.7_Silent_p.V152V	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	152					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTGGATTTGTCAAACCTGCTA	0.428000													28	30					0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094840	46094840	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:46094840G>A	ENST00000323040.4	-	2	1229	c.285C>T	c.(283-285)ttC>ttT	p.F95F	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	95						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGTAGAAGATGAACCCAAAGA	0.612000													16	211					0	0	1	0	0
ASB1	51665	broad.mit.edu	37	2	239353221	239353221	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:239353221C>T	ENST00000264607.4	+	4	980	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	ASB1_ENST00000409297.1_Missense_Mutation_p.R144C	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	245					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		TGCTGTTCTGCGCCACGGCTG	0.587000													10	119					0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79571744	79571744	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:79571744G>T	ENST00000372391.2	-	22	4265	c.4260C>A	c.(4258-4260)acC>acA	p.T1420T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1080T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1420	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGATGGTGATGGTATCACACT	0.657000													12	26					1.08611e-07	1.17971e-07	1	1	0
ZFP36L2	678	broad.mit.edu	37	2	43452198	43452198	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:43452198C>T	ENST00000282388.3	-	2	1038	c.745G>A	c.(745-747)Gag>Aag	p.E249K	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	249					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				GGCCGCGGCTCCCGCGGGAAG	0.751000													6	56					0	0	1	0	0
MAP10	54627	broad.mit.edu	37	1	232941958	232941958	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:232941958G>A	ENST00000418460.1	+	1	1316	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K		NM_019090.2	NP_061963.2			microtubule-associated protein 10									p.E397K(2)									AAGTAAGGCCGAATGTGATAA	0.463000													50	188					0	0	1	0	0
SCG2	7857	broad.mit.edu	37	2	224462621	224462621	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:224462621C>T	ENST00000305409.2	-	2	1612	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	460					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCAGAACTTTCTCCTGGTTAT	0.448000													6	78					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62553825	62553825	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:62553825G>C	ENST00000262435.9	-	13	1519	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	444	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CATGTGACAAGAGATACAACC	0.313000													43	100					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39796536	39796536	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:39796536C>G	ENST00000373272.2	+	20	2751	c.2346C>G	c.(2344-2346)ttC>ttG	p.F782L	PLCG1_ENST00000373271.1_Missense_Mutation_p.F782L|PLCG1_ENST00000244007.3_Missense_Mutation_p.F782L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	782					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ACCCTGGCTTCTATGTAGAGG	0.557000													5	33					0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272390	139272390	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:139272390G>T	ENST00000298532.2	-	21	4257	c.3889C>A	c.(3889-3891)Ctg>Atg	p.L1297M		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	1297	SNAPC2-binding.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CTGCTGCCCAGAAGAGGCACA	0.697000													4	44					0.00909568	0.00928428	1	1	0
ADAM10	102	broad.mit.edu	37	15	58913737	58913737	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:58913737C>T	ENST00000260408.3	-	11	1887	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.E181K|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	482	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AAGCAGCATTCATCTTTACAC	0.398000													5	69					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757912	757912	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:757912G>A	ENST00000215582.6	+	2	1069	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_173481.2	NP_775752.1			mitotic spindle positioning																		ACCAGGAGCTGGTGGAAATCC	0.672000													7	55					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659478	144659478	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:144659478C>T	ENST00000449291.2	-	4	823	c.529G>A	c.(529-531)Gat>Aat	p.D177N	NAPRT1_ENST00000426292.3_Missense_Mutation_p.D177N|NAPRT1_ENST00000276844.7_Missense_Mutation_p.D177N|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Missense_Mutation_p.D177N			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	177					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCCCCCATCGGGGCCCTGA	0.692000													7	5					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422311	64422311	+	Missense_Mutation	SNP	G	G	C	rs62001890	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:64422311G>C	ENST00000262043.3	+	16	5167	c.4827G>C	c.(4825-4827)caG>caC	p.Q1609H	PHF3_ENST00000393387.1_Missense_Mutation_p.Q1609H			Q92576	PHF3_HUMAN	PHD finger protein 3	1609					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGATAACCAGACTTCAAATA	0.363000													4	39					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39816507	39816507	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39816507C>G	ENST00000564288.1	+	43	11793	c.11016C>G	c.(11014-11016)gtC>gtG	p.V3672V	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Silent_p.V1610V|MACF1_ENST00000539005.1_Silent_p.V1610V|MACF1_ENST00000567887.1_Silent_p.V3709V|MACF1_ENST00000372915.3_Silent_p.V3677V|MACF1_ENST00000361689.2_Silent_p.V1610V|MACF1_ENST00000289893.4_Silent_p.V2112V|MACF1_ENST00000317713.7_Silent_p.V1610V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3677					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCACTGTTGTCAAGGACATTG	0.458000													8	128					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49066425	49066425	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:49066425C>G	ENST00000376265.2	-	40	4760	c.4699G>C	c.(4699-4701)Gat>Cat	p.D1567H	CACNA1F_ENST00000323022.5_Missense_Mutation_p.D1556H|CACNA1F_ENST00000376251.1_Missense_Mutation_p.D1502H	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1567					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGACCTCATCTAGCAGCTTC	0.592000													10	137					0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76804409	76804409	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:76804409C>G	ENST00000261183.3	-	5	702	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	OSBPL8_ENST00000393249.2_Missense_Mutation_p.E33Q|OSBPL8_ENST00000393250.4_Missense_Mutation_p.E33Q	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	75					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TTCCCTCTTTCAAAACCTTAA	0.269000													3	54					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83926593	83926593	+	Silent	SNP	C	C	T	rs142800358		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:83926593C>T	ENST00000345382.2	-	5	2671	c.2586G>A	c.(2584-2586)tcG>tcA	p.S862S	BNC1_ENST00000569704.1_Silent_p.S855S|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	862	Ser-rich.				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ACTTCATGCTCGAGGTAGTGC	0.547000													8	60					0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638202	145638202	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:145638202C>T	ENST00000276833.5	-	10	1984	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	SLC39A4_ENST00000301305.3_Missense_Mutation_p.E586K|SLC39A4_ENST00000531013.1_5'UTR	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	586						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			ATCCAGGCCTCGCTCTCCTCG	0.672000													5	64					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76496214	76496214	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:76496214C>G	ENST00000388942.3	+	11	1430	c.1154C>G	c.(1153-1155)aCc>aGc	p.T385S		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	385						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						ACCAGCGCCACCTCGGAGAGT	0.647000													12	52					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530736	140530736	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140530736C>T	ENST00000231136.1	+	1	898	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R164W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		300	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGAAATTCGGCTGAGAAA	0.443000													6	83					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599343	29599343	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:29599343G>A	ENST00000431530.3	+	1	596	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	170						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTTGACAATGAGGAACTGAG	0.527000													25	114					0	0	1	0	0
STARD13	90627	broad.mit.edu	37	13	33859766	33859766	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:33859766G>C	ENST00000336934.5	-	1	126	c.10C>G	c.(10-12)Cag>Gag	p.Q4E	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	4					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGGGCACCTGACTGAACATC	0.552000													9	121					0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35500044	35500044	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:35500044G>C	ENST00000599564.1	+	3	362	c.291G>C	c.(289-291)cgG>cgC	p.R97R	GRAMD1A_ENST00000411896.2_Silent_p.R10R|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000424536.2_Silent_p.R10R|GRAMD1A_ENST00000598073.1_3'UTR|GRAMD1A_ENST00000317991.5_Silent_p.R10R			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	10	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACTCTGGCCGGAGCACGCCAA	0.627000													5	183					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62364271	62364271	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62364271C>G	ENST00000278823.2	-	9	1109	c.720G>C	c.(718-720)agG>agC	p.R240S	MTA2_ENST00000527204.1_Missense_Mutation_p.R67S|MTA2_ENST00000524902.1_Missense_Mutation_p.R67S	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	240	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CGTAGCCGTTCCTTTGCAAGG	0.562000													8	88					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150967797	150967797	+	Nonstop_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150967797G>T	ENST00000368947.4	+	14	1513	c.1037G>T	c.(1036-1038)tGa>tTa	p.*346L		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	0					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAGACATGTGAGACTTCCCT	0.552000													48	149					2.43468e-25	2.74982e-25	1	1	0
CREB5	9586	broad.mit.edu	37	7	28848986	28848986	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:28848986G>A	ENST00000357727.2	+	9	1599	c.1209G>A	c.(1207-1209)ttG>ttA	p.L403L	CREB5_ENST00000409603.1_Silent_p.L370L|CREB5_ENST00000396299.2_Silent_p.L370L|CREB5_ENST00000396298.2_Silent_p.L264L|CREB5_ENST00000396300.2_Silent_p.L396L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	403	Leucine-zipper.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TGATGTCATTGGAAAAGAAAG	0.577000													6	68					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62165583	62165583	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:62165583G>A	ENST00000217185.2	-	3	465	c.438C>T	c.(436-438)ctC>ctT	p.L146L	PTK6_ENST00000542869.1_Silent_p.L45L	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	146	SH2.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			CGGGCAGGCTGAGGAAGGACA	0.706000													3	14					0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5966870	5966870	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:5966870G>C	ENST00000531445.1	-	6	1928	c.1882C>G	c.(1882-1884)Cag>Gag	p.Q628E	C4orf50_ENST00000324058.5_Missense_Mutation_p.Q154E			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	154										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGGTATGTCTGAGCTGGAAGG	0.507000													14	54					0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57135293	57135293	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:57135293G>C	ENST00000296318.7	-	11	1166	c.1078C>G	c.(1078-1080)Ctc>Gtc	p.L360V	IL17RD_ENST00000427856.2_Missense_Mutation_p.L336V|IL17RD_ENST00000320057.5_Missense_Mutation_p.L216V|IL17RD_ENST00000463523.1_Missense_Mutation_p.L216V	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	360	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAATAGCAGAGAAAGACCTTC	0.483000													5	27					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172431366	172431366	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:172431366G>C	ENST00000367727.4	+	5	520	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	C1orf105_ENST00000367725.4_Missense_Mutation_p.E98Q|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	108										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						AGCATCCTTTGAGAATTGTAT	0.363000													8	33					0	0	1	0	0
UBTD2	92181	broad.mit.edu	37	5	171661337	171661337	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:171661337C>G	ENST00000393792.2	-	2	501	c.96G>C	c.(94-96)ttG>ttC	p.L32F		NM_152277.2	NP_689490.2	Q8WUN7	UBTD2_HUMAN	ubiquitin domain containing 2	32						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTCCTTTTTCAAAGGCTGGT	0.368000													3	62					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15932089	15932089	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:15932089G>A	ENST00000452625.2	-	2	108	c.21C>T	c.(19-21)ctC>ctT	p.L7L	MYH11_ENST00000576790.2_Silent_p.L7L|MYH11_ENST00000300036.5_Silent_p.L7L|MYH11_ENST00000396324.3_Silent_p.L7L	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	7	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CATCGTCACTGAGTTGGCCCT	0.562000			T	CBFB	AML								12	60					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125805644	125805644	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:125805644G>C	ENST00000346248.5	-	2	727	c.85C>G	c.(85-87)Cac>Gac	p.H29D	CHST15_ENST00000421115.1_Missense_Mutation_p.H29D|CHST15_ENST00000435907.1_Missense_Mutation_p.H29D|CHST15_ENST00000462406.1_5'UTR	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	29					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGGTGACCGTGATGGGGGCCC	0.547000													10	47					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95172243	95172243	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:95172243C>G	ENST00000027335.3	-	12	1631	c.1507G>C	c.(1507-1509)Gac>Cac	p.D503H	CDH17_ENST00000450165.2_Missense_Mutation_p.D503H|CDH17_ENST00000441892.2_Missense_Mutation_p.D289H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	503	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGATCTGTGTCAACCCCCAGG	0.393000													19	78					0	0	1	0	0
MAF1	84232	broad.mit.edu	37	8	145161351	145161351	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:145161351G>A	ENST00000534585.1	+	5	875	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	MAF1_ENST00000322428.5_Missense_Mutation_p.E162K|MAF1_ENST00000532522.1_Missense_Mutation_p.E162K			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	162					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				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)			CTGCCTGGCTGAATGTGACAT	0.582000													9	58					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92268667	92268667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:92268667G>A	ENST00000435962.2	-	4	723	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TC2N_ENST00000360594.5_Nonsense_Mutation_p.Q134*|TC2N_ENST00000556018.1_Nonsense_Mutation_p.Q134*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.Q134*	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	134						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GAAATGTGCTGATACATATAG	0.448000													7	64					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77359035	77359035	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:77359035G>C	ENST00000451710.3	-	31	5359	c.5122C>G	c.(5122-5124)Caa>Gaa	p.Q1708E	TRPM6_ENST00000376871.3_Missense_Mutation_p.Q541E|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1699E|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1699E|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1704E|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1708E|TRPM6_ENST00000376872.3_Missense_Mutation_p.Q659E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1704					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGAGGCTCTTGAGGGCTTTTT	0.383000													11	72					0	0	1	0	0
LY6E	4061	broad.mit.edu	37	8	144103080	144103080	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:144103080C>T	ENST00000520466.1	+	5	673	c.270C>T	c.(268-270)atC>atT	p.I90I	LY6E_ENST00000522528.1_3'UTR|LY6E_ENST00000519611.1_3'UTR|LY6E_ENST00000523847.1_Intron|LY6E_ENST00000292494.6_Silent_p.I90I|LY6E_ENST00000519546.1_3'UTR|LY6E_ENST00000521003.1_Silent_p.I90I|LY6E_ENST00000521699.1_Silent_p.I90I|LY6E_ENST00000517503.1_3'UTR|LY6E_ENST00000521182.1_3'UTR|LY6E_ENST00000522024.1_Silent_p.I90I|LY6E_ENST00000429120.2_Silent_p.I90I|LY6E_ENST00000522971.1_Silent_p.I90I			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	90	UPAR/Ly6.				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATGGGCATCAGCTGCTGCC	0.632000													11	221					0	0	1	0	0
SRSF3	6428	broad.mit.edu	37	6	36564702	36564702	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:36564702G>C	ENST00000373715.6	+	2	279	c.163G>C	c.(163-165)Gat>Cat	p.D55H	SRSF3_ENST00000339436.7_Missense_Mutation_p.D55H	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	55	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TGAATTTGAAGATCCCCGAGA	0.433000													18	61					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730510	140730510	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140730510G>C	ENST00000523390.1	+	1	683	c.683G>C	c.(682-684)cGa>cCa	p.R228P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTGGATCCGAGTTACGGAT	0.552000													27	45					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186121955	186121955	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:186121955G>A	ENST00000271588.4	+	96	15199	c.14970G>A	c.(14968-14970)gtG>gtA	p.V4990V	HMCN1_ENST00000367492.2_Silent_p.V4990V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4990	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATCGTTGTGAGTGGCTATG	0.428000													23	56					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796951	7796951	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7796951G>C	ENST00000328853.5	-	1	106	c.38C>G	c.(37-39)tCc>tGc	p.S13C	CLEC4G_ENST00000598081.1_Intron	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	13						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GACCTCCTCGGAGCTGCCGCC	0.612000													7	67					0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89983834	89983834	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:89983834C>A	ENST00000222511.6	+	3	356	c.290C>A	c.(289-291)tCa>tAa	p.S97*	GTPBP10_ENST00000257659.8_Intron	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	97					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GTGGGTATTTCAGTAACTGAT	0.333000													20	40					8.04996e-18	9.04104e-18	1	1	0
TET1	80312	broad.mit.edu	37	10	70450615	70450615	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:70450615C>G	ENST00000373644.4	+	12	5664	c.5455C>G	c.(5455-5457)Cat>Gat	p.H1819D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1819					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AACCGAACCCCATTTTATCTT	0.433000													4	53					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10403949	10403949	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:10403949C>G	ENST00000226207.5	-	28	3953	c.3859G>C	c.(3859-3861)Gaa>Caa	p.E1287Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1287				TESG -> QNQV (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCACCTGATTCTGTTTGCAGG	0.468000													7	53					0	0	1	0	0
SETDB1	9869	broad.mit.edu	37	1	150933472	150933472	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150933472G>A	ENST00000271640.5	+	16	3124	c.2934G>A	c.(2932-2934)aaG>aaA	p.K978K	SETDB1_ENST00000368969.4_Silent_p.K978K	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	978	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACACCCAAGAACAAGGTGG	0.527000													12	316					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160586	38160586	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:38160586G>C	ENST00000358582.4	-	4	1212	c.464C>G	c.(463-465)aCa>aGa	p.T155R	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.T155R	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TTGAGCGATTGTTAAATGCCT	0.383000													16	131					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50867260	50867260	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:50867260G>T	ENST00000313478.7	-	34	5089	c.4808C>A	c.(4807-4809)tCa>tAa	p.S1603*	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Nonsense_Mutation_p.S1602*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1603	Alpha-type protein kinase.				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GCCTAGTTGTGACCAAGAAGA	0.428000													9	76					1.12685e-05	1.20047e-05	1	1	0
TEX26	122046	broad.mit.edu	37	13	31531143	31531143	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:31531143G>C	ENST00000380473.3	+	4	459	c.446G>C	c.(445-447)aGa>aCa	p.R149T	TEX26_ENST00000530916.1_3'UTR	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	149																	CTTACTAAGAGAGACTTTGTG	0.438000													10	54					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14893279	14893279	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:14893279C>T	ENST00000378372.3	+	7	768	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	177					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GTCTGCAGCTCTTCTTGCTTA	0.353000													6	89					0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65857024	65857024	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:65857024A>G	ENST00000308259.5	+	7	754	c.480A>G	c.(478-480)acA>acG	p.T160T	MSRB3_ENST00000355192.3_Silent_p.T167T|MSRB3_ENST00000535664.1_Silent_p.T160T	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	167					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		TGTCTTTTACACCTGCGGATA	0.547000													5	101					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179018730	179018730	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:179018730G>A	ENST00000319449.4	+	10	1245	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	RUFY1_ENST00000393438.2_Silent_p.K303K|RUFY1_ENST00000437570.2_Silent_p.K303K|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	411					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAGGAGAAGAAAGTCCGGT	0.443000										HNSCC(44;0.11)			7	78					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480959	32480959	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:32480959C>G	ENST00000266088.4	+	9	1208	c.958C>G	c.(958-960)Cta>Gta	p.L320V	SLC5A1_ENST00000543737.1_Missense_Mutation_p.L193V	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	320					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GTGTGGGTATCTAAAGCTGAT	0.512000													8	94					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9781113	9781113	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:9781113G>A	ENST00000383829.2	+	3	1434	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	BRPF1_ENST00000433861.2_Missense_Mutation_p.D344N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D344N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D344N|BRPF1_ENST00000302054.3_Missense_Mutation_p.D344N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	344					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CAAGCAGACAGATGACGGGCG	0.612000													10	227					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4836825	4836825	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:4836825G>A	ENST00000302640.8	+	52	7190	c.6840G>A	c.(6838-6840)atG>atA	p.M2280I	ITPR1_ENST00000443694.2_Missense_Mutation_p.M2280I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.M2247I|ITPR1_ENST00000354582.6_Missense_Mutation_p.M2280I|ITPR1_ENST00000456211.2_Missense_Mutation_p.M2232I|ITPR1_ENST00000357086.4_Missense_Mutation_p.M2247I	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2295					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCGTCCTGATGAACCTGCTGG	0.512000													5	23					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17053089	17053089	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:17053089G>A	ENST00000262096.8	+	4	1024	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	110						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GTTCTTAGGCGAGCAGCCAAG	0.413000													28	6					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2037890	2037890	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:2037890G>C	ENST00000262113.4	+	15	1845	c.1704G>C	c.(1702-1704)ccG>ccC	p.P568P	MYOM2_ENST00000523438.1_5'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	568	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TGAGATCCCCGAGATATGCCG	0.562000													8	41					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16552750	16552750	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:16552750G>A	ENST00000380672.4	-	5	504	c.447C>T	c.(445-447)ctC>ctT	p.L149L	BNC2_ENST00000545497.1_Silent_p.L54L|BNC2_ENST00000380667.2_Silent_p.L82L|BNC2_ENST00000380666.2_Silent_p.L149L	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCTGCGTGCTGAGCTTATCCA	0.517000													4	70					0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15262642	15262642	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:15262642G>A	ENST00000380488.4	-	7	1144	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	ASB9_ENST00000380483.3_3'UTR|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000546332.1_3'UTR|ASB9_ENST00000380485.3_3'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	291	SOCS box.				intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGATGTAGGAGAAACTGTTTC	0.378000													4	90					0	0	1	0	0
LIG1	3978	broad.mit.edu	37	19	48647171	48647171	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:48647171C>T	ENST00000263274.7	-	10	1245	c.826G>A	c.(826-828)Gtg>Atg	p.V276M	LIG1_ENST00000536218.1_Missense_Mutation_p.V208M|LIG1_ENST00000427526.2_Missense_Mutation_p.V245M	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	276					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GCATCTTCCACGGGATGATAG	0.542000								Nucleotide excision repair (NER)					34	46					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60107240	60107240	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:60107240C>G	ENST00000397786.2	-	7	1220	c.1144G>C	c.(1144-1146)Gaa>Caa	p.E382Q		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	382					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATTGCATTCTTGCCAAACT	0.338000													6	122					0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132382056	132382056	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:132382056G>T	ENST00000372478.4	-	2	763	c.562C>A	c.(562-564)Ccg>Acg	p.P188T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	188										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				GGACACCGCGGAGACCCTGGG	0.607000													5	110					3.59834e-05	3.7993e-05	1	1	0
HLA-G	3135	broad.mit.edu	37	6	29795877	29795877	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:29795877G>C	ENST00000428701.1	+	3	305	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	HLA-G_ENST00000360323.6_Missense_Mutation_p.E43Q|HLA-G_ENST00000376815.3_Missense_Mutation_p.E43Q|HLA-G_ENST00000376828.2_Missense_Mutation_p.E48Q|HLA-G_ENST00000376818.3_Missense_Mutation_p.E43Q	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	43	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CGGCCGCGGGGAGCCCCGCTT	0.726000													12	35					0	0	1	0	0
OR6C4	341418	broad.mit.edu	37	12	55945044	55945044	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:55945044C>G	ENST00000394256.2	+	1	62	c.34C>G	c.(34-36)Cta>Gta	p.L12V	RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						TGAGTTTATTCTACTGGGCCT	0.368000													20	126					0	0	1	0	0
SFT2D2	375035	broad.mit.edu	37	1	168204411	168204411	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:168204411C>G	ENST00000271375.4	+	4	381	c.309C>G	c.(307-309)atC>atG	p.I103M	SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Intron|SFT2D2_ENST00000367829.1_Intron	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2						protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					TTGCAACTATCATGGTGCTGG	0.408000													24	372					0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34814771	34814771	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:34814771C>A	ENST00000265109.3	+	12	1223	c.936C>A	c.(934-936)ttC>ttA	p.F312L	RAI14_ENST00000506376.1_Missense_Mutation_p.F304L|RAI14_ENST00000428746.2_Missense_Mutation_p.F312L|RAI14_ENST00000512629.1_Missense_Mutation_p.F283L|RAI14_ENST00000397449.1_Missense_Mutation_p.F305L|RAI14_ENST00000515799.1_Missense_Mutation_p.F315L|RAI14_ENST00000503673.1_Missense_Mutation_p.F312L	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	312						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AACCACCCTTCAAGGTATTTC	0.338000													20	28					6.44725e-10	7.08845e-10	1	1	0
TNNT1	7138	broad.mit.edu	37	19	55649377	55649377	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:55649377C>G	ENST00000588981.1	-	10	657	c.453G>C	c.(451-453)aaG>aaC	p.K151N	TNNT1_ENST00000587758.1_Missense_Mutation_p.K140N|TNNT1_ENST00000291901.8_Missense_Mutation_p.K151N|TNNT1_ENST00000356783.5_Missense_Mutation_p.K140N|TNNT1_ENST00000585321.2_Missense_Mutation_p.K81N|TNNT1_ENST00000588426.1_Missense_Mutation_p.K48N|TNNT1_ENST00000536926.1_Missense_Mutation_p.K140N|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587465.2_Missense_Mutation_p.K81N	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	151					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		ACAGCACCTTCTTTTTCTTGG	0.572000													52	59					0	0	1	0	0
OR1D5	8386	broad.mit.edu	37	17	2966410	2966410	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:2966410G>T	ENST00000575751.1	-	1	491	c.492C>A	c.(490-492)acC>acA	p.T164T		NM_014566.1	NP_055381.1	P58170	OR1D5_HUMAN	olfactory receptor, family 1, subfamily D, member 5	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|lung(10)	11						AGGTCACCCTGGTCAGGAGGA	0.552000													6	42					0.217242	0.21791	1	1	0
SNAP47	116841	broad.mit.edu	37	1	227946866	227946866	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:227946866C>G	ENST00000366759.4	+	3	1217	c.803C>G	c.(802-804)tCt>tGt	p.S268C	SNAP47_ENST00000315781.5_Missense_Mutation_p.S268C|SNAP47_ENST00000366760.1_Missense_Mutation_p.S26C	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	268						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGAACAGAGTCTCACGTTAAA	0.468000													13	39					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55582845	55582845	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:55582845G>C	ENST00000436346.1	-	8	1511	c.670C>G	c.(670-672)Cta>Gta	p.L224V	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L224V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L224V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L224V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	224					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GCATGGGGTAGAAAATGGAGA	0.443000													8	42					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979130	120979130	+	Missense_Mutation	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:120979130A>C	ENST00000222462.2	+	4	1119	c.829A>C	c.(829-831)Ata>Cta	p.I277L	WNT16_ENST00000361301.2_Missense_Mutation_p.I267L	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	277					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					TCAGAGGAAAATACCAATCCA	0.383000													32	19					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24483912	24483912	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:24483912G>C	ENST00000327535.1	-	7	1283	c.1271C>G	c.(1270-1272)tCt>tGt	p.S424C	IFNLR1_ENST00000374421.3_Missense_Mutation_p.S395C|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		TGGTGGGAGAGATTCTTGGTG	0.622000													13	104					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104783606	104783606	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:104783606C>T	ENST00000357311.3	-	9	1123	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K	SRPK2_ENST00000489828.1_Missense_Mutation_p.E318K|SRPK2_ENST00000393651.3_Missense_Mutation_p.E329K	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	318	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GGGCAGTATTCGCCATCCTGG	0.502000													13	119					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298263	36298263	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:36298263G>A	ENST00000437635.2	-	2	382	c.205C>T	c.(205-207)Cac>Tac	p.H69Y		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	69										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GTGGTGCAGTGAGCCTCTGCA	0.627000													15	73					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51742421	51742421	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:51742421G>T	ENST00000251076.5	-	42	9093	c.8806C>A	c.(8806-8808)Cac>Aac	p.H2936N	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.H2300N|DMXL2_ENST00000543779.2_Missense_Mutation_p.H2937N	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2936						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGAACGTGTGAATGAGCTGC	0.493000													5	25					1.23904e-05	1.31784e-05	1	1	0
ZNF716	441234	broad.mit.edu	37	7	57528463	57528463	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:57528463C>T	ENST00000420713.1	+	4	408	c.296C>T	c.(295-297)tCa>tTa	p.S99L		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GACCTTCAGTCAGAGCAGGGC	0.338000													10	51					0	0	1	0	0
EMX1	2016	broad.mit.edu	37	2	73161038	73161038	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:73161038G>A	ENST00000258106.6	+	3	1206	c.828G>A	c.(826-828)acG>acA	p.T276T	EMX1_ENST00000394111.5_3'UTR	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						GCATTGCCACGAAGCAGGCCA	0.597000													13	71					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087816	175087816	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:175087816G>C	ENST00000239462.4	+	11	2619	c.2506G>C	c.(2506-2508)Gga>Cga	p.G836R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	836	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTCTGCCAACGGAGAGACCAG	0.617000													6	175					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475265	140475265	+	Missense_Mutation	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140475265T>G	ENST00000194155.4	+	1	1039	c.891T>G	c.(889-891)agT>agG	p.S297R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		297	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGATTAAGTGCAAAATCGG	0.423000													6	70					0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063077	59063077	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:59063077G>C	ENST00000600118.1	-	5	1033	c.608C>G	c.(607-609)tCa>tGa	p.S203*	CHMP2A_ENST00000601220.1_Nonsense_Mutation_p.S203*|CHMP2A_ENST00000312547.2_Nonsense_Mutation_p.S203*			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	203	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGCTAGGGCTGAGGCTGCGGC	0.607000													9	145					0	0	1	0	0
THG1L	54974	broad.mit.edu	37	5	157158638	157158638	+	Splice_Site	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:157158638C>T	ENST00000231198.7	+	1	434	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	64					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAATTTCCATCGGTGAGCGAG	0.632000													22	164					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55224487	55224487	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:55224487A>G	ENST00000275493.2	+	10	1346	c.1169A>G	c.(1168-1170)cAg>cGg	p.Q390R	EGFR_ENST00000454757.2_Missense_Mutation_p.Q337R|EGFR_ENST00000344576.2_Missense_Mutation_p.Q390R|EGFR_ENST00000442591.1_Missense_Mutation_p.Q390R|EGFR_ENST00000455089.1_Missense_Mutation_p.Q345R|EGFR_ENST00000420316.2_Missense_Mutation_p.Q390R|EGFR_ENST00000342916.3_Missense_Mutation_p.Q390R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	390					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGATCCACAGGAACTGGAT	0.373000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			11	40					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31472304	31472304	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:31472304G>C	ENST00000511367.2	-	16	2351	c.2107C>G	c.(2107-2109)Ctc>Gtc	p.L703V	DROSHA_ENST00000344624.3_Missense_Mutation_p.L703V|DROSHA_ENST00000442743.1_Missense_Mutation_p.L666V|DROSHA_ENST00000513349.1_Missense_Mutation_p.L666V	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	703	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.L703I(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AAGTACAGGAGAATCTGGTGC	0.493000													23	92					0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9879822	9879822	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:9879822G>C	ENST00000383820.5	-	9	935	c.934C>G	c.(934-936)Ctc>Gtc	p.L312V	RPUSD3_ENST00000424438.1_3'UTR|RPUSD3_ENST00000433535.2_Missense_Mutation_p.L297V|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	312					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					TGTAGGTGGAGGTGCAAGGGC	0.642000													3	35					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233431	43233431	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:43233431C>G	ENST00000327495.5	-	5	1271	c.1087G>C	c.(1087-1089)Gaa>Caa	p.E363Q	PSG3_ENST00000595140.1_Missense_Mutation_p.E363Q	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	363	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CAAGAATATTCTGCTGGTGGG	0.453000													33	433					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750005	140750005	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140750005G>A	ENST00000576222.1	+	1	175	c.44G>A	c.(43-45)cGa>cAa	p.R15Q	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGAGGCGAATGCTATTT	0.552000													9	40					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487274	36487274	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:36487274G>A	ENST00000342292.4	-	11	2198	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	726						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGGCCTCGGGGAATTCCGCCA	0.682000													8	72					0	0	1	0	0
PLOD2	5352	broad.mit.edu	37	3	145789144	145789144	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:145789144G>C	ENST00000282903.5	-	18	2092	c.1915C>G	c.(1915-1917)Ctg>Gtg	p.L639V	PLOD2_ENST00000360060.3_Missense_Mutation_p.L618V|PLOD2_ENST00000494950.1_Missense_Mutation_p.L584V|PLOD2_ENST00000461497.1_Missense_Mutation_p.L299V|RP11-274H2.2_ENST00000480247.1_RNA	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	618					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	ACATTCTCCAGATCAACTTGC	0.403000													6	80					0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39271671	39271671	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:39271671C>G	ENST00000399820.3	+	31	3588	c.3434C>G	c.(3433-3435)tCc>tGc	p.S1145C	WDR19_ENST00000288634.7_Missense_Mutation_p.S985C	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1145					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AAAATTCCCTCCGAGATGGCC	0.468000													6	66					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730575	140730575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140730575G>T	ENST00000523390.1	+	1	748	c.748G>T	c.(748-750)Gaa>Taa	p.E250*	PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGCCTCCAAGAAAACGTACC	0.542000													5	107					1.23904e-05	1.31784e-05	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77616899	77616899	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:77616899C>T	ENST00000521891.2	+	2	1024	c.576C>T	c.(574-576)atC>atT	p.I192I	ZFHX4_ENST00000518282.1_Silent_p.I192I|ZFHX4_ENST00000050961.6_Silent_p.I192I|ZFHX4_ENST00000455469.2_Silent_p.I192I|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	192						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACAGATCATCAACACTTTTC	0.483000										HNSCC(33;0.089)			9	40					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37323576	37323576	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:37323576C>A	ENST00000361924.2	+	3	664	c.290C>A	c.(289-291)tCt>tAt	p.S97Y	GOLGA4_ENST00000356847.4_Missense_Mutation_p.S119Y|GOLGA4_ENST00000444882.1_Missense_Mutation_p.S97Y|GOLGA4_ENST00000435830.2_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	97					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTACGAACATCTTCCAGAGAA	0.483000													17	78					9.16793e-09	1.00164e-08	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35697839	35697839	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:35697839G>A	ENST00000440995.2	+	15	2070	c.2070G>A	c.(2068-2070)aaG>aaA	p.K690K	SPEF2_ENST00000356031.3_Silent_p.K695K|SPEF2_ENST00000509059.1_Silent_p.K690K|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	695					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTTGCTGAAGAAAGGAAAGA	0.348000													4	59					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639410	7639410	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:7639410C>G	ENST00000359156.4	-	10	2346		c.e10-1		CD163_ENST00000396620.3_Splice_Site|CD163_ENST00000541972.1_Splice_Site|CD163_ENST00000432237.2_Splice_Site	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule						acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGACCACTCTCTGCAAAGAGA	0.443000													6	109					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39823395	39823395	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39823395G>C	ENST00000564288.1	+	45	12550	c.11773G>C	c.(11773-11775)Gag>Cag	p.E3925Q	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.E1863Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1863Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E3962Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E3930Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E1863Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E2365Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1863Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3930					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGCTTCTCAGAGGATGTCAT	0.493000													24	118					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281494	25281494	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:25281494C>G	ENST00000218548.6	+	17	2767	c.2434C>G	c.(2434-2436)Ctg>Gtg	p.L812V	ATP12A_ENST00000381946.3_Missense_Mutation_p.L806V	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	806					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTGCCCCTTTCTGATCTACAT	0.498000													10	187					0	0	1	0	0
GTPBP1	9567	broad.mit.edu	37	22	39112893	39112893	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:39112893G>A	ENST00000216044.5	+	4	955	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	241					immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					ACCAAGATCTGTGAGAAGTCC	0.527000													14	81					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64718884	64718884	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:64718884G>C	ENST00000338957.4	+	3	821	c.754G>C	c.(754-756)Gat>Cat	p.D252H	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D241H	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	241							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACAGATCAAGATATTCTACG	0.383000													6	171					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77477446	77477446	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:77477446G>C	ENST00000255194.6	-	8	1002	c.827C>G	c.(826-828)tCt>tGt	p.S276C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S227C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	276					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATCATCATCAGATTCGTAGAA	0.348000									Hermansky-Pudlak syndrome				4	29					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49888630	49888630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:49888630C>A	ENST00000553127.1	+	8	884	c.371C>A	c.(370-372)tCa>tAa	p.S124*	SPATS2_ENST00000321898.6_Nonsense_Mutation_p.S124*|SPATS2_ENST00000552918.1_Nonsense_Mutation_p.S124*|SPATS2_ENST00000552557.1_3'UTR			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	124						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GCGCCTTCCTCAGAGAAAGGT	0.453000													9	44					3.86212e-05	4.07451e-05	1	1	0
BRDT	676	broad.mit.edu	37	1	92470768	92470768	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:92470768C>G	ENST00000370389.2	+	18	3392	c.2468C>G	c.(2467-2469)tCa>tGa	p.S823*	BRDT_ENST00000394530.3_Nonsense_Mutation_p.S850*|BRDT_ENST00000402388.1_Nonsense_Mutation_p.S896*|BRDT_ENST00000362005.3_Nonsense_Mutation_p.S896*|BRDT_ENST00000399546.2_Nonsense_Mutation_p.S896*	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	896					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAGCAGTCATCAGAAGCTCAA	0.393000													6	85					0	0	1	0	0
VSIG1	340547	broad.mit.edu	37	X	107316518	107316518	+	Missense_Mutation	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:107316518A>C	ENST00000415430.3	+	6	876	c.715A>C	c.(715-717)Aat>Cat	p.N239H	VSIG1_ENST00000217957.5_Missense_Mutation_p.N203H	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	203						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						AAATCTGACAAATTTTGAACA	0.413000													13	137					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112588952	112588952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:112588952G>A	ENST00000341068.3	-	21	3308	c.2536C>T	c.(2536-2538)Cag>Tag	p.Q846*		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	846					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTCACCCACTGATAAATACTT	0.378000													10	38					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027927	150027927	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:150027927G>C	ENST00000343855.4	+	1	990	c.434G>C	c.(433-435)aGa>aCa	p.R145T	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		GTGGAGGGGAGAAGCCAGGGG	0.647000													3	61					0	0	1	0	0
WEE1	7465	broad.mit.edu	37	11	9598751	9598751	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:9598751G>C	ENST00000299613.6	+	5	1195	c.440G>C	c.(439-441)cGa>cCa	p.R147P	WEE1_ENST00000450114.2_Missense_Mutation_p.R361P	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	361					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		CATGTAGTTCGATATTTCTCT	0.358000													18	62					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179590360	179590360	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:179590360G>A	ENST00000589042.1	-	71	20795	c.20571C>T	c.(20569-20571)gtC>gtT	p.V6857V	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.V6540V|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.V5613V|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6540	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTTTGGAGACAAATCTTG	0.428000													12	33					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607386	53607386	+	Silent	SNP	G	G	A	rs144513689		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53607386G>A	ENST00000425354.2	-	8	1399	c.912C>T	c.(910-912)ttC>ttT	p.F304F	RARG_ENST00000338561.5_Silent_p.F293F|RARG_ENST00000394426.1_Silent_p.F304F|RARG_ENST00000543726.1_Silent_p.F282F|RARG_ENST00000327550.3_Silent_p.F232F|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	304	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGAGGGGCCCGAAGCCGGCAT	0.607000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	97					0	0	1	0	0
CCNT2	905	broad.mit.edu	37	2	135712173	135712173	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:135712173C>G	ENST00000264157.5	+	9	2178	c.2148C>G	c.(2146-2148)ttC>ttG	p.F716L	CCNT2_ENST00000295238.6_3'UTR|CCNT2_ENST00000537343.1_3'UTR	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	716					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding	p.F716F(1)		endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AAGACACATTCGACATGCTGG	0.398000													11	34					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	294642	294642	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:294642G>A	ENST00000409548.2	+	14	2222	c.2107G>A	c.(2107-2109)Ggg>Agg	p.G703R	ATHL1_ENST00000409655.1_Missense_Mutation_p.G455R|ATHL1_ENST00000409479.1_Missense_Mutation_p.G730R	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	703					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAGTTCCCTGGGAGGACTTT	0.622000													11	227					0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54426099	54426099	+	Nonsense_Mutation	SNP	C	C	T	rs41302780		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:54426099C>T	ENST00000371370.3	+	5	1197	c.676C>T	c.(676-678)Cga>Tga	p.R226*	LRRC42_ENST00000319223.4_Nonsense_Mutation_p.R226*	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	226										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						AGCACCAGTTCGAGTGATGAA	0.363000													6	159					0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105655578	105655578	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:105655578G>T	ENST00000542731.1	+	10	1354	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	CDHR3_ENST00000317716.9_Nonsense_Mutation_p.E416*|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Nonsense_Mutation_p.E328*|CDHR3_ENST00000343407.5_Nonsense_Mutation_p.E133*|CDHR3_ENST00000541203.1_3'UTR			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	416	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TCTAGACTACGAAAATCCAAG	0.373000													5	11					0.00116845	0.00120541	1	1	0
LMLN	89782	broad.mit.edu	37	3	197712727	197712727	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:197712727A>G	ENST00000330198.4	+	8	917	c.895A>G	c.(895-897)Aga>Gga	p.R299G	LMLN_ENST00000332636.5_Missense_Mutation_p.R247G|LMLN_ENST00000420910.2_Missense_Mutation_p.R299G|LMLN_ENST00000482695.1_Missense_Mutation_p.R247G	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	299					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TCTCACTTCAAGATTTGCAGA	0.378000													6	21					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100105692	100105692	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:100105692G>A	ENST00000375202.2	+	33	3829	c.2477G>A	c.(2476-2478)gGa>gAa	p.G826E	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000411667.2_Missense_Mutation_p.G823E|CCDC180_ENST00000529487.1_Missense_Mutation_p.G826E|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.G965E					coiled-coil domain containing 180																		ATCTCCAGTGGAAACACTTAT	0.443000													9	71					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37916834	37916834	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37916834G>C	ENST00000316950.6	-	5	731	c.174C>G	c.(172-174)ttC>ttG	p.F58L	ZNF569_ENST00000589833.1_Missense_Mutation_p.F82L|ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Missense_Mutation_p.F58L|ZNF569_ENST00000592490.1_Intron	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTCCAATTTGAAAATCACAT	0.448000													13	631					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38453284	38453284	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:38453284G>C	ENST00000373019.4	-	4	1219	c.264C>G	c.(262-264)ctC>ctG	p.L88L	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Intron	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	88					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTATTTGCTTGAGTCTATTAT	0.383000													10	252					0	0	1	0	0
ADGRE4P	326342	broad.mit.edu	37	19	6990856	6990856	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:6990856G>C	ENST00000600751.1	-	0	1					NR_024075.1																						GACGTGGTCAGAATGCCTGGA	0.512000													18	74					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70965786	70965786	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:70965786C>G	ENST00000334414.6	-	12	2968	c.2924G>C	c.(2923-2925)gGa>gCa	p.G975A	PTPRB_ENST00000451516.2_Missense_Mutation_p.G667A|PTPRB_ENST00000551525.1_Missense_Mutation_p.G974A|PTPRB_ENST00000550857.1_Missense_Mutation_p.G667A|PTPRB_ENST00000550358.1_Missense_Mutation_p.G887A|PTPRB_ENST00000538708.1_Missense_Mutation_p.G757A|PTPRB_ENST00000261266.5_Missense_Mutation_p.G757A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	757	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATCAAAGTCTCCAGTGGCATG	0.413000													19	145					0	0	1	0	0
CFL1	1072	broad.mit.edu	37	11	65623630	65623630	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:65623630C>G	ENST00000525451.2	-	3	802	c.87G>C	c.(85-87)gtG>gtC	p.V29V	CFL1_ENST00000531413.1_Silent_p.V12V|CFL1_ENST00000534769.1_Silent_p.V67V|CFL1_ENST00000531407.1_Silent_p.V12V|CFL1_ENST00000527344.1_Silent_p.V12V|CFL1_ENST00000524553.1_Silent_p.V12V|CFL1_ENST00000308162.5_Silent_p.V29V			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	29	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TGCGCTTCTTCACCTCCTCTG	0.562000													15	82					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90428633	90428633	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:90428633C>G	ENST00000369393.3	-	42	6289	c.6174G>C	c.(6172-6174)atG>atC	p.M2058I	MDN1_ENST00000428876.1_Missense_Mutation_p.M2058I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2058					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCATCCAGCTCATCTGCACAC	0.572000													5	56					0	0	1	0	0
URI1	8725	broad.mit.edu	37	19	30505801	30505801	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:30505801C>G	ENST00000392271.1	+	11	1730	c.1205C>G	c.(1204-1206)tCt>tGt	p.S402C	URI1_ENST00000360605.4_Intron|URI1_ENST00000542441.2_Missense_Mutation_p.S478C|URI1_ENST00000312051.6_Missense_Mutation_p.S438C	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	478					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										TAGGCTTTTTCTGGAACTGTT	0.378000													12	101					0	0	1	0	0
ITGA2B	3674	broad.mit.edu	37	17	42460974	42460974	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:42460974C>T	ENST00000262407.5	-	12	1128	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	ITGA2B_ENST00000353281.4_Missense_Mutation_p.R366Q|ITGA2B_ENST00000377068.3_Missense_Mutation_p.R51Q	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	366					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			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)	GTGGGGGCCTCGCGGCTGCAG	0.657000													3	34					0	0	1	0	0
NAPG	8774	broad.mit.edu	37	18	10549050	10549050	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:10549050C>G	ENST00000322897.6	+	11	821	c.752C>G	c.(751-753)tCa>tGa	p.S251*	NAPG_ENST00000542979.1_Nonsense_Mutation_p.S169*	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	251					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						GATCAGGTGTCAGATGTCTGC	0.453000													9	300					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66482977	66482977	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:66482977C>T	ENST00000359626.5	+	6	872	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	236	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGACCAAGTTCATCTCCCAGC	0.557000													7	37					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31671196	31671196	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:31671196C>T	ENST00000331728.4	+	15	1788	c.1674C>T	c.(1672-1674)ctC>ctT	p.L558L	LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000406516.1_Silent_p.L480L|LIMK2_ENST00000333611.4_Silent_p.L537L|LIMK2_ENST00000340552.4_Silent_p.L537L|LIMK2_ENST00000444929.2_Silent_p.L312L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	558	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACTTTGGCCTCAACGTGAAGC	0.542000													7	149					0	0	1	0	0
IER2	9592	broad.mit.edu	37	19	13264172	13264172	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:13264172G>A	ENST00000588173.1	+	1	1384	c.172G>A	c.(172-174)Gag>Aag	p.E58K	IER2_ENST00000587885.1_Missense_Mutation_p.E58K|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000292433.3_Missense_Mutation_p.E58K|CTC-250I14.6_ENST00000586483.1_RNA			Q9BTL4	IER2_HUMAN	immediate early response 2	58										kidney(1)|lung(1)|ovary(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			CCTCGAGCCCGAGGTGTCGTT	0.736000											OREG0025291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	11					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139909249	139909249	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:139909249G>A	ENST00000297183.6	+	29	6842	c.6718G>A	c.(6718-6720)Gat>Aat	p.D2240N	ANKHD1_ENST00000544120.1_Missense_Mutation_p.D623N|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2240N|ANKHD1_ENST00000360839.2_Missense_Mutation_p.D2240N	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGCTACAGATGCCTCTTT	0.502000													51	80					0	0	1	0	0
EGLN1	54583	broad.mit.edu	37	1	231502185	231502185	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:231502185G>A	ENST00000366641.3	-	5	4408	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	418					negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	GACCGAATCTGAAGGTTTATT	0.373000													4	30					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19352073	19352073	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:19352073G>C	ENST00000380432.2	+	20	3676	c.3643G>C	c.(3643-3645)Gaa>Caa	p.E1215Q	DENND4C_ENST00000434457.2_Missense_Mutation_p.E1500Q|DENND4C_ENST00000602925.1_Missense_Mutation_p.E1451Q			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1215						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTTGTAGGTGAAGTTCCATT	0.373000													9	56					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082047	152082047	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152082047C>G	ENST00000368804.1	-	2	3645	c.3646G>C	c.(3646-3648)Gat>Cat	p.D1216H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1216					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGATCCTCATCCCGGTATCGC	0.517000													10	112					0	0	1	0	0
SESN1	27244	broad.mit.edu	37	6	109415001	109415001	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:109415001G>C	ENST00000436639.2	-	1	1021	c.276C>G	c.(274-276)atC>atG	p.I92M	SESN1_ENST00000517548.1_5'UTR	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	0					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TCCTTACCTGGATGCTCTTCA	0.368000													4	36					0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95661013	95661013	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:95661013C>G	ENST00000371408.3	+	3	922	c.861C>G	c.(859-861)ctC>ctG	p.L287L	SLC35G1_ENST00000427197.1_Silent_p.L288L			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	288	DUF6 2.					integral to membrane											GGCTATTTCTCATATTCATTG	0.418000													7	28					0	0	1	0	0
DLL4	54567	broad.mit.edu	37	15	41226822	41226822	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:41226822C>T	ENST00000249749.5	+	7	1203	c.927C>T	c.(925-927)acC>acT	p.T309T		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	309	EGF-like 3.				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GAAGCTACACCTGCACCTGTC	0.587000													3	22					0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19316421	19316421	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:19316421C>T	ENST00000461366.1	+	4	767	c.552C>T	c.(550-552)ttC>ttT	p.F184F	RNF112_ENST00000580109.1_Intron|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	184							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGAAGTCCTTCCTCCTCAACC	0.682000													9	30					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85498420	85498420	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:85498420G>A	ENST00000370587.1	-	7	1067	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	MCOLN3_ENST00000370589.2_Missense_Mutation_p.R231C|MCOLN3_ENST00000341115.4_Missense_Mutation_p.R175C|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	231						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TCTTGATGACGAACTGTCTGC	0.408000													10	140					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10318580	10318580	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:10318580C>A	ENST00000377086.1	+	4	415	c.213C>A	c.(211-213)aaC>aaA	p.N71K	KIF1B_ENST00000377083.1_Missense_Mutation_p.N71K|KIF1B_ENST00000263934.6_Missense_Mutation_p.N71K|KIF1B_ENST00000377093.4_Missense_Mutation_p.N71K|KIF1B_ENST00000377081.1_Missense_Mutation_p.N71K			O60333	KIF1B_HUMAN	kinesin family member 1B	71	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CATCTCAAAACCGTGTGTACA	0.378000													9	73					0.00448238	0.00459149	1	1	0
PCDH17	27253	broad.mit.edu	37	13	58298895	58298895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:58298895G>T	ENST00000377918.3	+	4	2973	c.2947G>T	c.(2947-2949)Gag>Tag	p.E983*		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	983					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCTAATGTTGAGACTGAGAC	0.433000													19	59					8.28177e-16	9.27743e-16	1	1	0
VTI1B	10490	broad.mit.edu	37	14	68123264	68123264	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:68123264C>G	ENST00000554659.1	-	4	750	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q		NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	137					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		TTCAGGCTTTCAGTGCCCTGC	0.458000													9	122					0	0	1	0	0
TPM1	7168	broad.mit.edu	37	15	63363288	63363288	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:63363288G>C	ENST00000357980.4	+	10	977		c.e10-1		RP11-244F12.2_ENST00000558905.1_RNA|TPM1_ENST00000358278.3_Splice_Site|TPM1_ENST00000559397.1_Splice_Site|TPM1_ENST00000404484.4_Splice_Site|TPM1_ENST00000559556.1_Splice_Site|TPM1_ENST00000267996.7_Splice_Site			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						TCTCACCACAGAGAAAGTGGC	0.408000													4	34					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144899575	144899575	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:144899575G>C	ENST00000392869.2	-	5	547	c.395C>G	c.(394-396)tCa>tGa	p.S132*	GTDC1_ENST00000542155.1_Nonsense_Mutation_p.S132*|GTDC1_ENST00000463875.2_Nonsense_Mutation_p.S3*|GTDC1_ENST00000241391.5_Nonsense_Mutation_p.S132*|GTDC1_ENST00000409214.1_Nonsense_Mutation_p.S132*|GTDC1_ENST00000392867.3_Nonsense_Mutation_p.S132*|GTDC1_ENST00000409298.1_Nonsense_Mutation_p.S132*|GTDC1_ENST00000344850.4_Nonsense_Mutation_p.S132*	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AGTGAGAAATGATTCCATATT	0.393000													5	30					0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37092022	37092022	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:37092022G>C	ENST00000231790.2	+	19	2365	c.2149G>C	c.(2149-2151)Gaa>Caa	p.E717Q	MLH1_ENST00000536378.1_Intron|MLH1_ENST00000539477.1_Missense_Mutation_p.E476Q|MLH1_ENST00000455445.2_Missense_Mutation_p.E476Q|MLH1_ENST00000435176.1_Missense_Mutation_p.E619Q|MLH1_ENST00000458205.2_Missense_Mutation_p.E476Q	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	717					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GTGGACTGTGGAACACATTGT	0.453000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	52					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90385267	90385267	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:90385267C>G	ENST00000369393.3	-	78	12792	c.12677G>C	c.(12676-12678)aGa>aCa	p.R4226T	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.R4226T			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4226					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGAGAACCCTCTGCACCTCTC	0.537000													17	28					0	0	1	0	0
PPCS	79717	broad.mit.edu	37	1	42922574	42922574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:42922574C>A	ENST00000372561.3	+	1	345	c.338C>A	c.(337-339)tCg>tAg	p.S113*	PPCS_ENST00000472013.1_3'UTR|PPCS_ENST00000372562.1_Intron|PPCS_ENST00000372556.3_Intron|PPCS_ENST00000455780.1_Intron|PPCS_ENST00000372560.3_Nonsense_Mutation_p.S113*	NM_024664.2	NP_078940.2	Q9HAB8	PPCS_HUMAN	phosphopantothenoylcysteine synthetase	113					coenzyme biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenate--cysteine ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3)	12	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCAGCCCTTTCGGGCTTGCTG	0.647000													12	354					6.40141e-05	6.74254e-05	1	1	0
TGFB3	7043	broad.mit.edu	37	14	76425590	76425590	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:76425590C>T	ENST00000238682.3	-	7	1476	c.1179G>A	c.(1177-1179)ggG>ggA	p.G393G		NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	393					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TGGGGGTCCTCCCAACATAGT	0.572000													10	46					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83999363	83999363	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:83999363C>G	ENST00000343939.2	+	7	1817	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	OSGIN1_ENST00000393306.1_Silent_p.L395L|OSGIN1_ENST00000361711.3_Silent_p.L395L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	478					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCTGGTCCTCATCGGCTCCC	0.637000													17	32					0	0	1	0	0
WFDC3	140686	broad.mit.edu	37	20	44404215	44404215	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:44404215G>C	ENST00000243938.4	-	6	603	c.520C>G	c.(520-522)Ctg>Gtg	p.L174V	WFDC3_ENST00000372632.2_Missense_Mutation_p.L80V|WFDC3_ENST00000372630.2_Missense_Mutation_p.L37V|WFDC3_ENST00000481847.1_5'UTR	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	174	WAP 4.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AGGCCCACCAGAACTTTTGGA	0.532000													9	110					0	0	1	0	0
LAYN	143903	broad.mit.edu	37	11	111431084	111431084	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:111431084G>C	ENST00000436913.2	+	6	992	c.591G>C	c.(589-591)gaG>gaC	p.E197D	LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.E342D|LAYN_ENST00000375615.3_Missense_Mutation_p.E350D|LAYN_ENST00000533265.1_3'UTR	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	350						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		TGAGCGTGGAGAGTGGATTTG	0.468000													29	56					0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736964	24736964	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:24736964G>C	ENST00000483544.1	-	0	138					NR_029451.2																						GGAAGAAAAAGAAAAGGAAAG	0.498000													47	113					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344833	5344833	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:5344833C>G	ENST00000328813.2	-	1	749	c.695G>C	c.(694-696)aGa>aCa	p.R232T	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTTGGCTCTCTCTTCACC	0.368000													3	46					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27706220	27706220	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27706220G>A	ENST00000260570.3	-	7	609	c.506C>T	c.(505-507)tCt>tTt	p.S169F	IFT172_ENST00000359466.6_Missense_Mutation_p.S169F|IFT172_ENST00000416524.2_Missense_Mutation_p.S148F	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	169					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGCATGACCAGAGAGAATTCC	0.418000													10	62					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924398	44924398	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:44924398C>G	ENST00000395699.2	-	1	562	c.550G>C	c.(550-552)Gac>Cac	p.D184H		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	184	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GCCAGCGCGTCGCGGAACTCG	0.766000													4	29					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21170714	21170714	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:21170714G>C	ENST00000261383.3	-	1	48	c.49C>G	c.(49-51)Ccg>Gcg	p.P17A	DNAH3_ENST00000415178.1_Missense_Mutation_p.P17A|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	17	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTGGGCCCGGATGGGGAGGG	0.632000													7	116					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150140899	150140899	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:150140899C>G	ENST00000361875.3	+	2	3038	c.2022C>G	c.(2020-2022)ctC>ctG	p.L674L	TSC22D2_ENST00000361136.2_Intron|TSC22D2_ENST00000492828.1_3'UTR	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2								sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CAAAGAGCCTCTGGGATAGGT	0.388000													6	67					0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24930098	24930098	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:24930098G>C	ENST00000405141.1	+	14	2470	c.1759G>C	c.(1759-1761)Gag>Cag	p.E587Q	NCOA1_ENST00000538539.1_Missense_Mutation_p.E587Q|NCOA1_ENST00000288599.5_Missense_Mutation_p.E587Q|NCOA1_ENST00000348332.3_Missense_Mutation_p.E587Q|NCOA1_ENST00000395856.3_Missense_Mutation_p.E587Q|NCOA1_ENST00000406961.1_Missense_Mutation_p.E587Q|NCOA1_ENST00000407230.1_Missense_Mutation_p.E436Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	587	Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATAACAAAGAGATTGCCTC	0.413000			T	PAX3	alveolar rhadomyosarcoma								6	75					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72935152	72935152	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:72935152G>A	ENST00000262209.4	-	27	3556	c.3349C>T	c.(3349-3351)Ctt>Ttt	p.L1117F	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1117						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TAAGGCTCAAGATGGTGTGTT	0.428000													32	38					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123101473	123101473	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:123101473G>C	ENST00000466202.1	-	11	2521	c.1945C>G	c.(1945-1947)Caa>Gaa	p.Q649E	IQUB_ENST00000324698.6_Missense_Mutation_p.Q649E	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	649								p.Q649*(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TAGAGCTGTTGAAGTAAACAT	0.388000													5	55					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007538	6007538	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:6007538G>C	ENST00000332249.4	-	1	677	c.623C>G	c.(622-624)tCa>tGa	p.S208*		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGTTTCTGAGCAGGCAAG	0.488000													8	139					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13213025	13213025	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:13213025C>G	ENST00000378694.1	+	2	186	c.111C>G	c.(109-111)ggC>ggG	p.G37G	MCM10_ENST00000378714.3_Silent_p.G37G|MCM10_ENST00000484800.2_Silent_p.G37G			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	37					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGGAAAATGGCGAGCCCGACG	0.473000													16	219					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850909	167850909	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:167850909C>T	ENST00000265293.4	+	11	2148	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	WWC1_ENST00000521089.1_Missense_Mutation_p.P549L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	549					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CCCTGTTCCCCTCTCATGGCT	0.612000													8	66					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495416	71495416	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:71495416G>C	ENST00000296755.7	+	5	6532	c.6234G>C	c.(6232-6234)caG>caC	p.Q2078H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2078						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGCCCGTCAGGATGTCGATT	0.478000													25	86					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28900809	28900809	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:28900809C>G	ENST00000375664.4	+	10	1869	c.1260C>G	c.(1258-1260)atC>atG	p.I420M	WAC_ENST00000347934.4_Missense_Mutation_p.I362M|WAC_ENST00000354911.4_Missense_Mutation_p.I465M|WAC_ENST00000375646.1_Missense_Mutation_p.I313M			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	p.I465M(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CAGTCCCTATCAAACCTTTGA	0.403000													8	78					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42563642	42563642	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:42563642G>A	ENST00000262895.3	-	5	545	c.546C>T	c.(544-546)ctC>ctT	p.L182L	GRIK5_ENST00000301218.4_Silent_p.L182L|GRIK5_ENST00000593562.1_Silent_p.L182L	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	182						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CCTTGGAGATGAGGAAGCCAC	0.602000													22	85					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57893678	57893678	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:57893678G>T	ENST00000295951.3	+	16	2684	c.1467G>T	c.(1465-1467)ttG>ttT	p.L489F	SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000428312.1_Missense_Mutation_p.L506F|SLMAP_ENST00000295952.3_Missense_Mutation_p.L489F|SLMAP_ENST00000495364.1_Missense_Mutation_p.L40F|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000494088.1_Intron|SLMAP_ENST00000449503.2_Missense_Mutation_p.L468F			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	506					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAAAGGAATTGATCGAAGCCC	0.398000													8	62					0.00307968	0.00315961	1	1	0
ADPRM	56985	broad.mit.edu	37	17	10608795	10608795	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:10608795G>T	ENST00000379774.4	+	2	643	c.552G>T	c.(550-552)atG>atT	p.M184I	ADPRM_ENST00000609540.1_Missense_Mutation_p.M184I	NM_020233.4	NP_064618.3			ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent																		AGCAGTGTATGAAGATATTGA	0.378000													42	33					2.54651e-27	2.87986e-27	1	1	0
LDHD	197257	broad.mit.edu	37	16	75146305	75146305	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:75146305G>C	ENST00000300051.4	-	11	1519	c.1473C>G	c.(1471-1473)ctC>ctG	p.L491L	LDHD_ENST00000450168.2_Silent_p.L468L	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	491							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GCACGGCCTTGAGCTGCCGCA	0.637000													15	23					0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74701742	74701742	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:74701742G>A	ENST00000393965.3	-	9	2580	c.2184C>T	c.(2182-2184)ctC>ctT	p.L728L	CCDC142_ENST00000290418.4_Silent_p.L721L	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	728										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GGTGTTGCCTGAGGGCAAGCC	0.597000													5	97					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633576	633576	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:633576C>T	ENST00000026218.5	+	10	2313	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	742					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCCGGGCCCTCACTCCCTGAA	0.632000													6	102					0	0	1	0	0
ALAD	210	broad.mit.edu	37	9	116152709	116152709	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:116152709C>G	ENST00000409155.3	-	7	742	c.546G>C	c.(544-546)ctG>ctC	p.L182L	ALAD_ENST00000277315.5_Silent_p.L165L	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	182					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CATGTGCCATCAGGGCCTCTT	0.612000													4	45					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1110881	1110881	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:1110881G>A	ENST00000361757.3	-	26	3128	c.2891C>T	c.(2890-2892)tCc>tTc	p.S964F	SBNO2_ENST00000438103.2_Missense_Mutation_p.S907F|SBNO2_ENST00000587024.1_Missense_Mutation_p.S954F	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	964					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGTGATGGAACAGTCTGG	0.582000													4	68					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789197	5789197	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:5789197C>T	ENST00000328090.5	+	15	4438	c.3813C>T	c.(3811-3813)gtC>gtT	p.V1271V		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1271																	GTAGAGAGGTCAGCCTAGAGT	0.403000													23	164					0	0	1	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146649755	146649755	+	RNA	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:146649755C>T	ENST00000607149.1	+	0	350				RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA																							CGGCCCGCCTCGCGGCTGCCT	0.721000													17	29					0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103804685	103804685	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:103804685G>C	ENST00000216554.3	+	7	1137	c.461G>C	c.(460-462)gGa>gCa	p.G154A	EIF5_ENST00000392715.2_Missense_Mutation_p.G154A|EIF5_ENST00000558506.1_Missense_Mutation_p.G154A	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	154					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGTGGTACaggaaagaaagaa	0.388000													8	38					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71305497	71305497	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:71305497C>G	ENST00000418807.3	+	9	905	c.741C>G	c.(739-741)ttC>ttG	p.F247L	NAGK_ENST00000443938.2_Missense_Mutation_p.F294L|NAGK_ENST00000244204.6_Missense_Mutation_p.F298L|NAGK_ENST00000443872.2_Missense_Mutation_p.F150L|NAGK_ENST00000455662.2_Missense_Mutation_p.F344L			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	298					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTCAGAACTTCTTCTCCAGCT	0.577000													4	62					0	0	1	0	0
DEDD	9191	broad.mit.edu	37	1	161094233	161094233	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:161094233C>T	ENST00000392188.1	-	3	254	c.20G>A	c.(19-21)cGg>cAg	p.R7Q	DEDD_ENST00000368006.3_Missense_Mutation_p.R7Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R7Q|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.R7Q|NIT1_ENST00000368008.1_3'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.R7Q|DEDD_ENST00000490843.2_Missense_Mutation_p.R7Q			O75618	DEDD_HUMAN	death effector domain containing	7					apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGGCTTGCCCGCCGCTTTAG	0.587000													81	42					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121768444	121768444	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:121768444G>A	ENST00000261819.3	-	9	1185	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	ANAPC5_ENST00000535482.1_Missense_Mutation_p.S21F|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.S256F|ANAPC5_ENST00000541887.1_Missense_Mutation_p.S355F|ANAPC5_ENST00000536366.1_Intron|ANAPC5_ENST00000344395.4_Missense_Mutation_p.S256F	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	355					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATAGCTATCGGATCTCTTCTG	0.423000													8	72					0	0	1	0	0
AAED1	195827	broad.mit.edu	37	9	99408276	99408276	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:99408276A>G	ENST00000375234.3	-	5	451	c.452T>C	c.(451-453)cTc>cCc	p.L151P	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	151							antioxidant activity|oxidoreductase activity										GCTTCCTGAGAGTAGATTTGA	0.418000													14	77					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102906783	102906783	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:102906783C>G	ENST00000359520.7	+	11	2815	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	TECPR2_ENST00000558678.1_Silent_p.L863L	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	863							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GAGCCCTTCTCTGGAAGATTG	0.438000													68	33					0	0	1	0	0
C8orf37	157657	broad.mit.edu	37	8	96281399	96281399	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:96281399C>A	ENST00000286688.5	-	1	30	c.19G>T	c.(19-21)Gag>Tag	p.E7*	KB-1047C11.2_ENST00000521905.1_lincRNA	NM_177965.3	NP_808880.1	Q96NL8	CH037_HUMAN	chromosome 8 open reading frame 37	7										kidney(1)|large_intestine(1)|lung(5)	7	Breast(36;3.41e-05)					TCCAAGAGCTCGTCCAGGTCC	0.607000											OREG0018873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	264					2.27459e-33	2.5757e-33	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111604152	111604152	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:111604152C>T	ENST00000431670.2	+	2	1639	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	PHLDB2_ENST00000481953.1_Missense_Mutation_p.R410W|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R437W|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R410W|PHLDB2_ENST00000478922.1_Missense_Mutation_p.R410W|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R410W|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R410W	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	410						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCCTGCCCTTCGGGAACGGAA	0.527000													10	85					0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279058	51279058	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:51279058G>T	ENST00000551456.1	+	4	727	c.682G>T	c.(682-684)Gaa>Taa	p.E228*	TMPRSS12_ENST00000398458.3_Nonsense_Mutation_p.E228*			Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	228	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						ACAAGATGCAGAAGTGCATTA	0.338000													6	103					0.0215528	0.0218458	1	1	0
OR6K3	391114	broad.mit.edu	37	1	158687217	158687217	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:158687217G>T	ENST00000368146.1	-	1	736	c.737C>A	c.(736-738)tCt>tAt	p.S246Y	OR6K3_ENST00000368145.1_Missense_Mutation_p.S230Y			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTCCCTTCAGAAGAGGGAAT	0.448000													6	102					3.59834e-05	3.7993e-05	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28090913	28090913	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:28090913C>G	ENST00000263181.6	-	11	1773	c.1483G>C	c.(1483-1485)Gag>Cag	p.E495Q		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	495					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CTCCTTTTCTCCAGGTAGGAG	0.383000													13	23					0	0	1	0	0
GSTM3	2947	broad.mit.edu	37	1	110280346	110280346	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:110280346C>A	ENST00000540225.1	-	7	710	c.400G>T	c.(400-402)Gag>Tag	p.E134*	GSTM3_ENST00000256594.3_Nonsense_Mutation_p.E134*|GSTM3_ENST00000361066.2_Nonsense_Mutation_p.E134*|GSTM3_ENST00000488824.1_5'UTR|RP4-735C1.4_ENST00000431955.1_RNA			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	134	GST C-terminal.				establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus	cytoplasm	glutathione transferase activity|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAGGTAGCTCTTCCAAGTAC	0.433000													12	86					0.00010058	0.000105684	1	1	0
SERPINA9	327657	broad.mit.edu	37	14	94929477	94929477	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:94929477C>G	ENST00000337425.5	-	5	1335	c.1261G>C	c.(1261-1263)Gac>Cac	p.D421H	SERPINA9_ENST00000298845.7_Missense_Mutation_p.D321H|SERPINA9_ENST00000380365.3_Missense_Mutation_p.D403H|SERPINA9_ENST00000448305.2_Missense_Mutation_p.D323H|SERPINA9_ENST00000424550.2_Missense_Mutation_p.D272H|RP11-349I1.2_ENST00000536735.1_RNA	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	403					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		AGAATACCGTCTGTGGCTTTA	0.433000													4	64					0	0	1	0	0
EID2B	126272	broad.mit.edu	37	19	40023029	40023029	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:40023029C>A	ENST00000326282.4	-	1	465	c.414G>T	c.(412-414)caG>caT	p.Q138H	EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	138					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGAAGTCCATCTGCGGGGGAT	0.597000													4	88					0.150653	0.15135	1	1	0
MANEAL	149175	broad.mit.edu	37	1	38265536	38265536	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:38265536C>A	ENST00000373045.6	+	4	1416	c.1035C>A	c.(1033-1035)aaC>aaA	p.N345K	MANEAL_ENST00000525897.1_Missense_Mutation_p.N151K|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000329006.5_Missense_Mutation_p.N123K|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	345						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGTGAAGAACTTTTGTGATG	0.517000													7	227					3.09899e-07	3.35488e-07	1	1	0
MARCH9	92979	broad.mit.edu	37	12	58152659	58152659	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:58152659C>T	ENST00000266643.5	+	4	1451	c.1020C>T	c.(1018-1020)gtC>gtT	p.V340V	MARCH9_ENST00000548358.1_Silent_p.V227V	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	340						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GAGAGGTTGTCATGAGGGTCA	0.567000													4	28					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85492706	85492706	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:85492706C>G	ENST00000393217.2	+	13	3204	c.3143C>G	c.(3142-3144)tCa>tGa	p.S1048*		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1048										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AACAGCATTTCAACTGTGGAA	0.303000													4	35					0	0	1	0	0
MRFAP1L1	114932	broad.mit.edu	37	4	6711006	6711006	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:6711006G>C	ENST00000320848.6	-	1	601	c.351C>G	c.(349-351)ctC>ctG	p.L117L		NM_203462.2	NP_982287.1	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	117																	TTCGCCAGACGAGCTCGACCA	0.547000													7	127					0	0	1	0	0
EIF2S3	1968	broad.mit.edu	37	X	24073096	24073096	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:24073096G>A	ENST00000253039.4	+	1	264	c.11G>A	c.(10-12)gGa>gAa	p.G4E		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	4						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						ATGGCGGGCGGAGAAGCTGGA	0.612000											OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	55					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40758248	40758248	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:40758248C>A	ENST00000372759.3	+	10	1500	c.1335C>A	c.(1333-1335)ttC>ttA	p.F445L		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	445						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ACTTGGGATTCCCTGTTTCTG	0.393000													12	226					3.07112e-06	3.29463e-06	1	1	0
ANKRD13B	124930	broad.mit.edu	37	17	27937754	27937754	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:27937754C>A	ENST00000394859.3	+	8	1028	c.874C>A	c.(874-876)Ctt>Att	p.L292I	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	292										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GACAGAACATCTTTCAGAACA	0.542000													6	40					0.000274275	0.000286234	1	1	0
PRKAR1B	5575	broad.mit.edu	37	7	590102	590102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:590102G>A	ENST00000406797.1	-	11	1285	c.1111C>T	c.(1111-1113)Cag>Tag	p.Q371*	PRKAR1B_ENST00000544935.1_Nonsense_Mutation_p.Q371*|PRKAR1B_ENST00000360274.4_Nonsense_Mutation_p.Q371*|PRKAR1B_ENST00000537384.1_Nonsense_Mutation_p.Q371*|PRKAR1B_ENST00000403562.1_Nonsense_Mutation_p.Q371*	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	371					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.Q371K(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TTGTAACGCTGAATGTTCCTC	0.652000													5	14					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43934643	43934643	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:43934643G>T	ENST00000282406.4	+	11	2035	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	642	Ser-rich.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCAGACTCACGCAGTAGGAGT	0.532000													6	100					0.0215528	0.0218458	1	1	0
MACF1	23499	broad.mit.edu	37	1	39775282	39775282	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39775282C>G	ENST00000564288.1	+	24	3607	c.2830C>G	c.(2830-2832)Cag>Gag	p.Q944E	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.Q949E|MACF1_ENST00000539005.1_Missense_Mutation_p.Q949E|MACF1_ENST00000567887.1_Missense_Mutation_p.Q981E|MACF1_ENST00000372915.3_Missense_Mutation_p.Q949E|MACF1_ENST00000361689.2_Missense_Mutation_p.Q949E|MACF1_ENST00000317713.7_Missense_Mutation_p.Q949E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	949					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTTTGGCATCAGCTGCATGT	0.408000													4	135					0	0	1	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140867030	140867030	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140867030G>C	ENST00000306593.1	+	1	2290	c.2290G>C	c.(2290-2292)Gat>Cat	p.D764H	PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTTTGTTGATGTGGGAGG	0.557000													12	45					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48197763	48197763	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:48197763C>G	ENST00000396720.3	+	8	2869	c.2675C>G	c.(2674-2676)tCt>tGt	p.S892C	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	892							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCTCCTCCTCTGAGACGTCC	0.706000													10	13					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351981	41351981	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41351981C>G	ENST00000301141.5	-	6	873	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	285					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AAGTAGAACTCCGTGTTGGGG	0.557000													6	92					0	0	1	0	0
PCID2	55795	broad.mit.edu	37	13	113849401	113849401	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:113849401C>G	ENST00000375457.2	-	6	937	c.341G>C	c.(340-342)cGa>cCa	p.R114P	PCID2_ENST00000375459.1_Missense_Mutation_p.R114P|PCID2_ENST00000375477.1_Missense_Mutation_p.R116P|PCID2_ENST00000246505.5_Missense_Mutation_p.R170P|PCID2_ENST00000375479.2_Missense_Mutation_p.R116P|PCID2_ENST00000337344.4_Missense_Mutation_p.R116P	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	116					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAAACACTCGAAGGTCAAG	0.413000													5	77					0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130432216	130432216	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:130432216G>C	ENST00000373302.3	+	11	1081	c.942G>C	c.(940-942)aaG>aaC	p.K314N	STXBP1_ENST00000373299.1_Missense_Mutation_p.K314N	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	314					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CTTCTAGCAAGAGAATGAATA	0.473000													7	107					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49089515	49089515	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:49089515G>C	ENST00000380950.2	-	5	710	c.523C>G	c.(523-525)Caa>Gaa	p.Q175E	CEP152_ENST00000325747.5_Intron|CEP152_ENST00000399334.3_Missense_Mutation_p.Q175E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	175					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGGTTCCATTGAGGATCTGAA	0.358000													4	62					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165984179	165984179	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:165984179C>G	ENST00000360093.3	-	18	3846	c.3355G>C	c.(3355-3357)Gag>Cag	p.E1119Q	SCN3A_ENST00000409101.3_Missense_Mutation_p.E1070Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E1119Q	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1119						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E1070K(1)|p.E1119K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGCTGAACTCTTCAGTATTT	0.358000													4	36					0	0	1	0	0
SEC62	7095	broad.mit.edu	37	3	169710702	169710702	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:169710702G>A	ENST00000337002.4	+	8	1109	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N	SEC62_ENST00000480708.1_Missense_Mutation_p.D351N	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	351					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GAGGGAAGATGATCGATCCCA	0.473000													8	22					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369034	22369034	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:22369034C>A	ENST00000332663.2	+	1	557	c.459C>A	c.(457-459)ttC>ttA	p.F153L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGGGGGGCTTCATTCATTCTA	0.502000													11	258					1.58986e-06	1.7112e-06	1	1	0
SLC35G3	146861	broad.mit.edu	37	17	33520404	33520404	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:33520404G>A	ENST00000297307.5	-	1	1008	c.923C>T	c.(922-924)tCt>tTt	p.S308F		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	308	DUF6 2.					integral to membrane											CACGATGTCAGAAGGTGCCAC	0.567000													10	255					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202880184	202880184	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:202880184C>T	ENST00000367261.3	-	5	933	c.715G>A	c.(715-717)Gag>Aag	p.E239K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E277K	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	239					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTACTTACCTCAGCATCTATT	0.438000													4	95					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78194265	78194265	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:78194265C>T	ENST00000370793.1	-	11	1289	c.943G>A	c.(943-945)Gat>Aat	p.D315N	USP33_ENST00000370794.3_Missense_Mutation_p.D284N|USP33_ENST00000357428.1_Missense_Mutation_p.D315N|USP33_ENST00000370792.3_Missense_Mutation_p.D315N	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	315					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAATCTACATCCGACTGGCTC	0.378000													11	46					0	0	1	0	0
CLEC7A	64581	broad.mit.edu	37	12	10280034	10280034	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:10280034G>C	ENST00000310002.4	-	3	316	c.210C>G	c.(208-210)ttC>ttG	p.F70L	CLEC7A_ENST00000533022.1_Intron|CLEC7A_ENST00000396484.2_Intron|CLEC7A_ENST00000353231.5_Intron|CLEC7A_ENST00000298523.5_Intron|CLEC7A_ENST00000304084.8_Intron	NM_197954.2	NP_922945.1	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	0					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CCACAGCTTTGAAACCAGCTA	0.363000													8	78					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870901	135870901	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:135870901G>A	ENST00000309993.2	-	2	1554	c.822C>T	c.(820-822)ctC>ctT	p.L274L	MSL2_ENST00000434835.2_Silent_p.L200L	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	274					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CTAAGCTGCGGAGTACTTCCT	0.438000													6	87					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313615	48313615	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:48313615C>G	ENST00000435803.1	+	17	4376	c.4352C>G	c.(4351-4353)tCa>tGa	p.S1451*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1451					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						CTTTGTTCATCAAATGGCTCA	0.264000													6	33					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88052323	88052323	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:88052323C>T	ENST00000307808.6	+	16	3452	c.3032C>T	c.(3031-3033)tCa>tTa	p.S1011L	AFF1_ENST00000544085.1_Missense_Mutation_p.S649L|AFF1_ENST00000395146.4_Missense_Mutation_p.S1018L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1011						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GAAAGCCAGTCATCCAAGTCA	0.463000													7	244					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849887	73849887	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:73849887G>C	ENST00000523207.1	+	3	2885	c.2297G>C	c.(2296-2298)aGa>aCa	p.R766T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	766					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGGGAGACAGACCCTTGCTG	0.562000													16	137					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156913798	156913798	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156913798G>A	ENST00000368194.3	-	32	4203	c.3164C>T	c.(3163-3165)tCc>tTc	p.S1055F	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.S1015F|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000315174.8_Missense_Mutation_p.S431F	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1015	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGTCTGAGGAGCCCACAGC	0.587000													13	113					0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6602077	6602077	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:6602077C>T	ENST00000229238.3	-	2	602	c.141G>A	c.(139-141)tgG>tgA	p.W47*	MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	47					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TTTTCTCGTTCCAACGATCAA	0.517000													15	112					0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4439451	4439451	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:4439451C>A	ENST00000329078.3	+	10	1635	c.1425C>A	c.(1423-1425)agC>agA	p.S475R		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	475					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACGCCGGGAGCCCCTACCTCA	0.697000													11	43					9.05144e-12	1.00234e-11	1	1	0
QSER1	79832	broad.mit.edu	37	11	32955280	32955280	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:32955280C>G	ENST00000399302.2	+	4	2424	c.2089C>G	c.(2089-2091)Caa>Gaa	p.Q697E	QSER1_ENST00000527788.1_Missense_Mutation_p.Q458E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	697	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACAGCACGATCAAATAATTAA	0.398000													29	57					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301486	191301486	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:191301486C>G	ENST00000392328.1	+	3	1055	c.731C>G	c.(730-732)tCa>tGa	p.S244*	MFSD6_ENST00000281416.7_Nonsense_Mutation_p.S244*	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	244					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ACTTTGAACTCAAGCACAGCA	0.473000													36	50					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101476528	101476528	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:101476528C>T	ENST00000341893.3	+	9	1830	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Nonsense_Mutation_p.Q360*			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	360	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TAATGATGATCAGTTATTTGC	0.368000													6	44					0	0	1	0	0
ACSL4	2182	broad.mit.edu	37	X	108906542	108906542	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:108906542C>G	ENST00000340800.2	-	14	2107	c.1603G>C	c.(1603-1605)Gag>Cag	p.E535Q	ACSL4_ENST00000469796.2_Missense_Mutation_p.E535Q|ACSL4_ENST00000348502.6_Missense_Mutation_p.E494Q	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	535					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GCTGTTTTCTCTTCATTTTTA	0.383000													11	114					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57543037	57543037	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:57543037G>A	ENST00000311180.8	+	1	1034	c.931G>A	c.(931-933)Gag>Aag	p.E311K	PDE12_ENST00000487257.1_Missense_Mutation_p.E311K	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	311							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CGCGCAGACTGAGTTCTCGCG	0.562000													35	76					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44734173	44734173	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:44734173G>C	ENST00000222673.5	+	12	1708	c.1666G>C	c.(1666-1668)Gag>Cag	p.E556Q	OGDH_ENST00000449767.1_Missense_Mutation_p.E552Q|OGDH_ENST00000543843.1_Missense_Mutation_p.E507Q|OGDH_ENST00000447398.1_Missense_Mutation_p.E567Q|OGDH_ENST00000444676.1_Missense_Mutation_p.E571Q|OGDH_ENST00000439616.2_Missense_Mutation_p.E406Q	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	556					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCCTGAGTATGAGGTACGTCC	0.567000													4	72					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132497607	132497607	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:132497607C>T	ENST00000333577.4	+	18	3712	c.3603C>T	c.(3601-3603)ttC>ttT	p.F1201F	EP400_ENST00000389561.2_Silent_p.F1165F|EP400_ENST00000332482.4_Silent_p.F1128F|EP400_ENST00000389562.2_Silent_p.F1164F|EP400_ENST00000330386.6_Silent_p.F1165F			Q96L91	EP400_HUMAN	E1A binding protein p400	1201	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACACTCAGTTCTTCCGGGGCC	0.597000													6	39					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33505169	33505169	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:33505169C>A	ENST00000404816.2	+	19	3409	c.3056C>A	c.(3055-3057)tCt>tAt	p.S1019Y	LTBP1_ENST00000418533.2_Missense_Mutation_p.S693Y|LTBP1_ENST00000404525.1_Missense_Mutation_p.S640Y|LTBP1_ENST00000402934.1_Missense_Mutation_p.S640Y|LTBP1_ENST00000390003.4_Missense_Mutation_p.S694Y|LTBP1_ENST00000354476.3_Missense_Mutation_p.S1020Y|LTBP1_ENST00000407925.1_Missense_Mutation_p.S693Y			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1019	EGF-like 7; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TCTCCTGGATCTTACCAGTGC	0.413000													4	47					0.00024832	0.000259354	1	1	0
SELPLG	6404	broad.mit.edu	37	12	109017011	109017011	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:109017011G>C	ENST00000388962.3	-	3	1202	c.1043C>G	c.(1042-1044)tCc>tGc	p.S348C	SELPLG_ENST00000550948.1_Missense_Mutation_p.S358C|SELPLG_ENST00000228463.6_Missense_Mutation_p.S374C	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	358					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTCGGTGGGGGAGTAATTACG	0.632000													3	50					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24742422	24742422	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:24742422C>G	ENST00000545231.1	-	11	1872	c.722G>C	c.(721-723)gGc>gCc	p.G241A	DFNA5_ENST00000342947.3_Missense_Mutation_p.G405A|DFNA5_ENST00000409775.3_Missense_Mutation_p.G405A|DFNA5_ENST00000409970.1_Missense_Mutation_p.G241A|DFNA5_ENST00000419307.1_Missense_Mutation_p.G241A			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	405					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GCAGCAAGTGCCCAGCAGAGC	0.512000													12	85					0	0	1	0	0
PSMC3	5702	broad.mit.edu	37	11	47445641	47445641	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:47445641C>T	ENST00000298852.3	-	6	704	c.547G>A	c.(547-549)Gag>Aag	p.E183K	PSMC3_ENST00000530912.1_Missense_Mutation_p.E141K|PSMC3_ENST00000602866.1_Missense_Mutation_p.E167K	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	183					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|interspecies interaction between organisms|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	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTATTGCTCCGTGGGCCTC	0.567000													21	216					0	0	1	0	0
OAZ1	4946	broad.mit.edu	37	19	2271493	2271493	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:2271493G>C	ENST00000583542.4	+	3	329	c.255G>C	c.(253-255)caG>caC	p.Q85H	OAZ1_ENST00000582888.4_Missense_Mutation_p.Q83H|OAZ1_ENST00000588673.2_Missense_Mutation_p.Q114H|OAZ1_ENST00000602676.2_Missense_Mutation_p.Q85H|OAZ1_ENST00000322297.4_Missense_Mutation_p.Q84H			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GGAATAGTCAGAGGGATCACA	0.602000													5	18					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119488195	119488195	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:119488195C>G	ENST00000313400.4	-	16	2761	c.2661G>C	c.(2659-2661)gaG>gaC	p.E887D	ASTN2_ENST00000361209.2_Missense_Mutation_p.E836D|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.E883D			O75129	ASTN2_HUMAN	astrotactin 2	887						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCCGACTGCTCTCCTTGGTCA	0.542000													22	83					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96792165	96792165	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:96792165G>C	ENST00000359933.4	-	15	3151	c.2258C>G	c.(2257-2259)tCt>tGt	p.S753C		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	753										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAAGCGAACAGAAAGGTTTAA	0.403000													6	55					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814041	106814041	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:106814041G>C	ENST00000407775.2	+	8	1981	c.1731G>C	c.(1729-1731)caG>caC	p.Q577H	ZFPM2_ENST00000520492.1_Missense_Mutation_p.Q445H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.Q445H|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.Q308H	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	577					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGCAGCAGATGGCTAAGT	0.453000													7	248					0	0	1	0	0
THOC3	84321	broad.mit.edu	37	5	175395153	175395153	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:175395153G>C	ENST00000513482.1	-	1	130	c.59C>G	c.(58-60)tCg>tGg	p.S20W	THOC3_ENST00000514861.1_Intron|THOC3_ENST00000265097.4_Missense_Mutation_p.S20W			Q96J01	THOC3_HUMAN	THO complex 3	20					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	transcription export complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		CGGGGCCATCGAGCCGGGGCC	0.701000													3	17					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174688	140174688	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140174688C>G	ENST00000526136.1	+	1	139	c.139C>G	c.(139-141)Cgc>Ggc	p.R47G	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R47G|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R47G	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCGCA	0.677000													42	101					0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340408	1340408	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:1340408C>G	ENST00000300574.2	-	2	423	c.283G>C	c.(283-285)Gat>Cat	p.D95H	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.D95H|CRK_ENST00000574295.1_Missense_Mutation_p.D95H	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	95	SH2.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		GGCAATGAATCAAACTCTTGA	0.428000													7	55					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96000583	96000583	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:96000583C>G	ENST00000297954.4	+	5	1302	c.1302C>G	c.(1300-1302)atC>atG	p.I434M	WNK2_ENST00000395475.2_Missense_Mutation_p.I420M|WNK2_ENST00000395477.2_Missense_Mutation_p.I434M|WNK2_ENST00000427277.2_Missense_Mutation_p.I46M|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.I46M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	434	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGAGTGTATCTGCAAAAACA	0.512000													7	50					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479728	4479728	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:4479728C>A	ENST00000237837.1	-	3	682	c.537G>T	c.(535-537)cgG>cgT	p.R179R		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	179		Cleavage; by proprotein convertases.	R -> Q (in ADHR; C-terminal processing is abolished; reduced proteolysis by PHEX; resistant to cleavage by furin).|R -> W (in ADHR; C-terminal processing is abolished; dbSNP:rs28937882).		cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCTCGGCGCTCCGGGTGTGCC	0.682000													11	89					1.58986e-06	1.7112e-06	1	1	0
PKD2L2	27039	broad.mit.edu	37	5	137271533	137271533	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:137271533G>C	ENST00000508638.1	+	11	1471	c.1416G>C	c.(1414-1416)gaG>gaC	p.E472D	PKD2L2_ENST00000502810.1_Missense_Mutation_p.E551D|PKD2L2_ENST00000350250.4_Missense_Mutation_p.E539D|PKD2L2_ENST00000508883.1_Missense_Mutation_p.E573D|PKD2L2_ENST00000290431.5_Missense_Mutation_p.E573D	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	573						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAGGCTTGAGAAAAAGTATT	0.378000													7	39					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41012280	41012280	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41012280C>T	ENST00000352632.3	+	13	1889	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	SPTBN4_ENST00000595535.1_Silent_p.F601F|SPTBN4_ENST00000598249.1_Silent_p.F601F|SPTBN4_ENST00000338932.3_Silent_p.F601F|SPTBN4_ENST00000344104.3_Silent_p.F601F			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	601					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCTGCGCTTCTCCCAGCTGC	0.617000													6	95					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061115	11061115	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:11061115C>G	ENST00000390677.2	-	1	1046	c.783G>C	c.(781-783)gtG>gtC	p.V261V	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	261					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCATGTAGATCACTGTGTTCT	0.388000													16	55					0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	32026804	32026804	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:32026804G>C	ENST00000217381.2	-	2	610	c.339C>G	c.(337-339)ctC>ctG	p.L113L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	113	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TCTTGGAAATGAGAATAGGCA	0.507000													26	205					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99941197	99941197	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:99941197G>A	ENST00000524871.1	+	11	1494	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N	CNTN5_ENST00000418526.2_Missense_Mutation_p.D328N|CNTN5_ENST00000528682.1_Missense_Mutation_p.D402N|CNTN5_ENST00000279463.3_Missense_Mutation_p.D402N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D402N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	402	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TACTCAGTTAGACAGTGGGAG	0.458000													3	19					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202403820	202403820	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:202403820C>T	ENST00000608999.1	+	9	1331	c.1178C>T	c.(1177-1179)tCt>tTt	p.S393F	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.S393F|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.S393F|PPP1R12B_ENST00000356764.2_Intron	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATTCCAACTCTGAAAGCAAG	0.368000													14	37					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131765718	131765718	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:131765718C>T	ENST00000372577.2	+	38	4440	c.4419C>T	c.(4417-4419)ctC>ctT	p.L1473L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1473					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCCTCAGCTCATGCGTGATA	0.577000													12	106					0	0	1	0	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7476125	7476125	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:7476125G>C	ENST00000579777.1	+	0	2036					NR_037926.1																						ATAAGTTGTCGATAGGCGGGC	0.592000													7	80					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62365548	62365548	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62365548C>G	ENST00000278823.2	-	6	827	c.438G>C	c.(436-438)gaG>gaC	p.E146D	MTA2_ENST00000527204.1_5'UTR|MTA2_ENST00000524902.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	146	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CAACTCTAATCTCGCCCTGAT	0.493000													25	150					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30322792	30322792	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:30322792G>C	ENST00000378970.4	-	2	1551	c.1317C>G	c.(1315-1317)atC>atG	p.I439M		NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	439	Ligand-binding (By similarity).		I -> S (in XL-AHC; mild phenotype).		adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CATTGGCATTGATGAATCTCA	0.448000													13	128					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791466	44791466	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44791466C>G	ENST00000291182.4	-	5	2224	c.2122G>C	c.(2122-2124)Gag>Cag	p.E708Q	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TAAGGCCTCTCTCCAGTGTGG	0.502000													6	129					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150445	247150445	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:247150445G>A	ENST00000339986.7	-	4	1519	c.1372C>T	c.(1372-1374)Cat>Tat	p.H458Y	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	458					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-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)			TCTCCAGTATGAATTCTCTTA	0.373000													3	38					0	0	1	0	0
VDAC1	7416	broad.mit.edu	37	5	133309491	133309491	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:133309491G>C	ENST00000265333.3	-	8	995	c.751C>G	c.(751-753)Cta>Gta	p.L251V	VDAC1_ENST00000395047.2_Missense_Mutation_p.L251V|VDAC1_ENST00000395044.3_Missense_Mutation_p.L251V	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	251					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CCTGGCTTTAGAGTCTGAGTG	0.348000													16	46					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21381666	21381666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:21381666G>A	ENST00000400602.2	-	13	1782	c.1747C>T	c.(1747-1749)Caa>Taa	p.Q583*	XPO4_ENST00000255305.6_Nonsense_Mutation_p.Q583*	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	583					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CCCAAAATTTGAAGTGTTGTA	0.388000													14	55					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688970	60688970	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:60688970G>T	ENST00000335712.6	-	4	1304	c.1077C>A	c.(1075-1077)ccC>ccA	p.P359P	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.P325P|BCL11A_ENST00000538214.1_Silent_p.P325P|BCL11A_ENST00000356842.4_Silent_p.P359P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	359	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGGAGGGAGGGGGGGCGTCG	0.637000			T	IGH@	B-CLL								10	159					2.17888e-05	2.31273e-05	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11596695	11596695	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:11596695C>A	ENST00000304391.6	+	5	908	c.790C>A	c.(790-792)Cct>Act	p.P264T	PTCHD2_ENST00000294484.6_Silent_p.L1377L|PTCHD2_ENST00000389575.3_Silent_p.L1377L			Q9P2K9	PTHD2_HUMAN	patched domain containing 2	0					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCTCGTGCTCCTGCAGAGCG	0.677000													3	15					0.004672	0.00478197	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109374920	109374920	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:109374920C>T	ENST00000283195.6	+	18	2644	c.2518C>T	c.(2518-2520)Cgt>Tgt	p.R840C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	840					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATCCCCTCATCGTTGGCCCAC	0.403000													19	227					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112589009	112589009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:112589009G>A	ENST00000341068.3	-	21	3251	c.2479C>T	c.(2479-2481)Caa>Taa	p.Q827*		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	827					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AATCCTGTTTGACCTTTAAAA	0.323000													4	32					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63976231	63976231	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:63976231C>G	ENST00000324472.4	-	18	1863	c.1680G>C	c.(1678-1680)ttG>ttC	p.L560F	DPY19L2_ENST00000413230.2_Missense_Mutation_p.L7F	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	560					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGTGCGGTGTCAAAAACATCT	0.353000													6	36					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132990735	132990735	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:132990735C>G	ENST00000253861.4	+	4	605	c.576C>G	c.(574-576)ctC>ctG	p.L192L	EXOC4_ENST00000393161.2_Silent_p.L192L|EXOC4_ENST00000539845.1_Silent_p.L91L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	192					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ACTTGGTTCTCATAGATGAAC	0.488000													4	64					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40643638	40643638	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:40643638C>T	ENST00000298910.7	+	8	907	c.849C>T	c.(847-849)ttC>ttT	p.F283F	LRRK2_ENST00000343742.2_Silent_p.F283F	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	283					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTAATTTTTTCAATATCCTGG	0.358000													7	27					0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46182626	46182626	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:46182626C>T	ENST00000396478.3	-	7	1352	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	417						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AACTACTTCCCATTTATTTTC	0.373000													5	127					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048239	42048239	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:42048239C>G	ENST00000372584.1	-	3	3244	c.2230G>C	c.(2230-2232)Gat>Cat	p.D744H	HIVEP3_ENST00000247584.5_Missense_Mutation_p.D744H|HIVEP3_ENST00000372583.1_Missense_Mutation_p.D744H|HIVEP3_ENST00000429157.2_Missense_Mutation_p.D744H	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	744	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGAGCAGCATCAGATGGCCCG	0.577000													6	219					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394465	109394465	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:109394465C>G	ENST00000370001.3	-	2	1090	c.822G>C	c.(820-822)aaG>aaC	p.K274N	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K274N|AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K274N	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	274										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TATTAATTATCTTATTTTTAG	0.398000													12	75					0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48018032	48018032	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:48018032G>A	ENST00000258774.5	-	3	362	c.339C>T	c.(337-339)ctC>ctT	p.L113L	HUS1_ENST00000432325.1_Silent_p.L92L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	113					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				CGGAGACCGTGAGGCAGGGAA	0.448000								Direct reversal of damage;Other conserved DNA damage response genes					10	62					0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84403601	84403601	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:84403601G>C	ENST00000260505.8	-	8	1199	c.822C>G	c.(820-822)atC>atG	p.I274M	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	274	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TAAACCATTTGATGGAACGTT	0.373000													9	67					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64852679	64852679	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:64852679G>A	ENST00000294258.3	+	3	347	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	65					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCCGAGAGACGACCCGCCTTG	0.617000													10	62					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2954043	2954043	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:2954043C>G	ENST00000416614.2	-	6	894	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	NOP14_ENST00000502735.1_Missense_Mutation_p.E277Q|NOP14_ENST00000314262.6_Missense_Mutation_p.E277Q|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000398071.4_Missense_Mutation_p.E277Q			P78316	NOP14_HUMAN	NOP14 nucleolar protein	277					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TTTGCCAATTCTGCCTCCGTC	0.552000													24	54					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43171253	43171253	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:43171253C>G	ENST00000252050.4	+	19	4032	c.3948C>G	c.(3946-3948)ctC>ctG	p.L1316L	CUL9_ENST00000354495.3_Silent_p.L1206L|CUL9_ENST00000372647.2_Silent_p.L1316L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1316	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GAACATGTCTCTTCTACACAA	0.642000													8	102					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61789027	61789027	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:61789027G>C	ENST00000332981.5	+	1	593	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	RP11-902B17.1_ENST00000500036.2_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	70	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CACGTACAACGAGGAGTTTTG	0.637000													18	41					0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340222	1340222	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:1340222C>T	ENST00000300574.2	-	2	609	c.469G>A	c.(469-471)Gac>Aac	p.D157N	CRK_ENST00000572145.1_5'UTR|CRK_ENST00000398970.5_Missense_Mutation_p.D157N|CRK_ENST00000574295.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	157	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CTCAAGATGTCTCCTTTCTTA	0.512000													40	94					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263619	1263619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:1263619G>T	ENST00000447027.1	+	31	5576	c.5518G>T	c.(5518-5520)Gag>Tag	p.E1840*	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Nonsense_Mutation_p.E1837*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1837	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTACCCCGAGGTAAGCAT	0.587000													12	49					1.36491e-13	1.52442e-13	1	1	0
SCYL3	57147	broad.mit.edu	37	1	169822892	169822892	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:169822892C>T	ENST00000367771.6	-	13	2243	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	SCYL3_ENST00000367772.4_Missense_Mutation_p.E731K|C1orf112_ENST00000286031.6_3'UTR|SCYL3_ENST00000367770.1_Missense_Mutation_p.E731K|C1orf112_ENST00000359326.4_3'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCCCTTCTTCTTCCCAGCCT	0.373000													23	286					0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320267	152320267	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:152320267G>A	ENST00000243326.5	+	29	4716	c.4233G>A	c.(4231-4233)caG>caA	p.Q1411Q	RIF1_ENST00000453091.2_Silent_p.Q1411Q|RIF1_ENST00000430328.2_Silent_p.Q1411Q|RIF1_ENST00000444746.2_Silent_p.Q1411Q|RIF1_ENST00000428287.2_Silent_p.Q1411Q			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTCCAAATCAGAAAACCCTTA	0.383000													11	47					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183334	33183334	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:33183334C>G	ENST00000397061.3	+	1	468	c.468C>G	c.(466-468)ctC>ctG	p.L156L		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	156	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GGCCTGGCCTCGCCCTGGAGC	0.761000													4	19					0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7592423	7592423	+	Missense_Mutation	SNP	C	C	A	rs145706318	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7592423C>A	ENST00000264079.6	+	5	714	c.589C>A	c.(589-591)Ccc>Acc	p.P197T		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	197					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCAGGTGGATCCCCCCGAGCG	0.637000													40	262					2.215e-12	2.46437e-12	1	1	0
POLH	5429	broad.mit.edu	37	6	43581679	43581679	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:43581679G>C	ENST00000372236.4	+	11	1822	c.1527G>C	c.(1525-1527)atG>atC	p.M509I	POLH_ENST00000372226.1_3'UTR|POLH_ENST00000535400.1_Missense_Mutation_p.M447I	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	509					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGGCTCCCATGAGCAATTCAC	0.443000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				15	51					0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99636783	99636783	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:99636783G>C	ENST00000393483.3	-	18	2621	c.1777C>G	c.(1777-1779)Cag>Gag	p.Q593E	TSGA10_ENST00000410001.1_Missense_Mutation_p.Q593E|TSGA10_ENST00000355053.4_Missense_Mutation_p.Q593E|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q593E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	593	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTAAGAAGCTGAATTTCAGAT	0.338000													10	25					0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95535261	95535261	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:95535261C>G	ENST00000343958.4	-	6	2963	c.2740G>C	c.(2740-2742)Gag>Cag	p.E914Q	FGD6_ENST00000546711.1_Missense_Mutation_p.E914Q|FGD6_ENST00000549499.1_Missense_Mutation_p.E914Q	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	914	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.E914Q(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATCCGGTCCTCAATCACTGGT	0.453000													11	51					0	0	1	0	0
TRIL	9865	broad.mit.edu	37	7	28997378	28997378	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:28997378G>C	ENST00000322982.3	-	0	556				AC005013.5_ENST00000436594.1_lincRNA			Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										GCAGAGAGCGGATCTGGTTGT	0.627000													5	48					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58437661	58437661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58437661C>A	ENST00000396147.1	-	4	2179	c.1888G>T	c.(1888-1890)Gaa>Taa	p.E630*	ZNF418_ENST00000595830.1_Nonsense_Mutation_p.E630*|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.E545*|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.E651*|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTGAAGGTTTCAGCAAAGGAT	0.433000													26	49					3.73808e-20	4.20917e-20	1	1	0
EPS8	2059	broad.mit.edu	37	12	15807106	15807106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:15807106G>T	ENST00000281172.5	-	13	1659	c.1223C>A	c.(1222-1224)tCa>tAa	p.S408*	EPS8_ENST00000540613.1_Nonsense_Mutation_p.S148*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.S408*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.S408*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.S148*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	408	PH; second part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TCCTCCCAATGACATCCACAG	0.378000													6	85					1.12685e-05	1.20047e-05	1	1	0
UPF1	5976	broad.mit.edu	37	19	18974296	18974296	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:18974296C>G	ENST00000262803.5	+	19	2922	c.2650C>G	c.(2650-2652)Ctc>Gtc	p.L884V	UPF1_ENST00000599848.1_Missense_Mutation_p.L895V	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	895					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AAAGCAGCCGCTCTGGAACCA	0.587000													60	202					0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491074	30491074	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:30491074G>C	ENST00000222823.4	-	6	2484	c.1959C>G	c.(1957-1959)atC>atG	p.I653M		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	653					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCAGCATCCAGATGAACGTGG	0.617000													5	45					0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30663280	30663280	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30663280C>A	ENST00000542965.2	+	2	643	c.187C>A	c.(187-189)Cac>Aac	p.H63N	PRR14_ENST00000300835.4_Missense_Mutation_p.H63N			Q9BWN1	PRR14_HUMAN	proline rich 14	63										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CATGGCTGTTCACATGGTGAG	0.592000													6	62					0.217242	0.21791	1	1	0
CCHCR1	54535	broad.mit.edu	37	6	31118785	31118785	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:31118785C>G	ENST00000396268.3	-	5	1104	c.916G>C	c.(916-918)Gag>Cag	p.E306Q	CCHCR1_ENST00000451521.2_Missense_Mutation_p.E270Q|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.E217Q|CCHCR1_ENST00000376266.5_Missense_Mutation_p.E217Q	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	217					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						TCGGCCAGCTCCTTGGCTTCC	0.602000													13	245					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639224	97639224	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:97639224G>T	ENST00000298440.1	-	4	1033	c.790C>A	c.(790-792)Cgg>Agg	p.R264R	OXGR1_ENST00000543457.1_Silent_p.R264R	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	264						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GATTCGATCCGAATGACCCTC	0.433000													4	65					0.150653	0.15135	1	1	0
MED14	9282	broad.mit.edu	37	X	40522377	40522377	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:40522377G>C	ENST00000324817.1	-	26	3602	c.3484C>G	c.(3484-3486)Cgt>Ggt	p.R1162G		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1162	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTAGTTTACGAGGTGGAGGC	0.453000													5	35					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30005349	30005349	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30005349C>T	ENST00000279392.3	-	4	1947	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	373					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCCCCTGCCTCGCTGTCACTT	0.587000													12	69					0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100184097	100184097	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:100184097G>C	ENST00000325103.6	-	14	1603	c.1370C>G	c.(1369-1371)tCc>tGc	p.S457C	HPS1_ENST00000361490.4_Missense_Mutation_p.S457C|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	457					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTCACTTTTGGAGAAAGCCTT	0.597000									Hermansky-Pudlak syndrome				3	18					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28419570	28419570	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:28419570G>A	ENST00000261609.7	-	65	10136	c.10028C>T	c.(10027-10029)gCa>gTa	p.A3343V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3343					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGGTCTCTTGCAGTCTGGAA	0.478000													4	11					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20857641	20857641	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:20857641C>G	ENST00000261377.6	+	19	2432	c.2223C>G	c.(2221-2223)atC>atG	p.I741M	AC004381.6_ENST00000348433.6_Missense_Mutation_p.I710M|AC004381.6_ENST00000564274.1_Missense_Mutation_p.I741M|ERI2_ENST00000564349.1_Intron	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TCTGCCTCATCCTGCTGCCAG	0.527000													26	100					0	0	1	0	0
PDIA5	10954	broad.mit.edu	37	3	122829805	122829805	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:122829805C>G	ENST00000316218.7	+	7	590	c.495C>G	c.(493-495)ctC>ctG	p.L165L		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	165	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TCAGACGGCTCCTGAAGAAGG	0.527000													29	122					0	0	1	0	0
ZDHHC3	51304	broad.mit.edu	37	3	44975428	44975428	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:44975428G>C	ENST00000296127.3	-	4	753	c.480C>G	c.(478-480)gtC>gtG	p.V160V	ZDHHC3_ENST00000342790.4_Silent_p.V194V|ZDHHC3_ENST00000424952.2_Silent_p.V160V	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	160						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		CACAGTTGTTGACCCAGGGAC	0.522000													28	245					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75528642	75528642	+	Translation_Start_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:75528642G>A	ENST00000540668.1	+	0	128				SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Silent_p.V752V|SEC24C_ENST00000411652.2_Silent_p.V633V|SEC24C_ENST00000535742.1_De_novo_Start_InFrame|SEC24C_ENST00000339365.2_Silent_p.V752V			P53992	SC24C_HUMAN	SEC24 family member C						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTGATGCTGTGATGCGGGTCC	0.557000													7	20					0	0	1	0	0
DCLRE1A	9937	broad.mit.edu	37	10	115609074	115609074	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:115609074G>C	ENST00000361384.2	-	2	2707	c.1790C>G	c.(1789-1791)tCg>tGg	p.S597W	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.S597W	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	597	Nuclear focus formation.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CTTGCACTGCGAGGACCTCTT	0.398000								Other identified genes with known or suspected DNA repair function					18	45					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137556	32137556	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:32137556G>C	ENST00000312561.4	+	4	4081	c.3667G>C	c.(3667-3669)Gat>Cat	p.D1223H	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		GAGAACTTCTGATAGAGATGT	0.388000													4	74					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145608582	145608582	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:145608582C>G	ENST00000265271.5	+	4	543	c.377C>G	c.(376-378)tCa>tGa	p.S126*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.S126*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	126					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACTCGTTCAGAATCTAGT	0.353000													10	87					0	0	1	0	0
TSPAN31	6302	broad.mit.edu	37	12	58139982	58139982	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:58139982C>G	ENST00000257910.3	+	3	529	c.255C>G	c.(253-255)gtC>gtG	p.V85V	TSPAN31_ENST00000547992.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000547472.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31	85					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTGGTTTGGTCTTCATCTTCC	0.358000													9	104					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981164	44981164	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44981164G>A	ENST00000221327.4	-	5	1815	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	ZNF180_ENST00000391956.4_Nonsense_Mutation_p.Q487*|ZNF180_ENST00000592529.1_Nonsense_Mutation_p.Q485*	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TGAGTTCTCTGATGAGCAACA	0.398000													6	92					0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12367107	12367107	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:12367107G>A	ENST00000269143.3	-	5	640	c.409C>T	c.(409-411)Cca>Tca	p.P137S		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	137					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCGTCCCATGGAATGTCACCC	0.478000													37	48					0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44625668	44625668	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:44625668C>T	ENST00000245121.5	+	13	1244	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	KATNAL2_ENST00000356157.7_Silent_p.L422L	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	422						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGGTCGATCTCCCCAGCCGGG	0.592000													5	49					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7796614	7796614	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7796614G>C	ENST00000328853.5	-	2	167	c.99C>G	c.(97-99)ttC>ttG	p.F33L	CLEC4G_ENST00000598081.1_5'UTR	NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	33						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCAGGGCCAAGAAGAGGGGTC	0.602000													3	49					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24124316	24124316	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:24124316G>T	ENST00000303531.7	+	8	996	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	PRKCB_ENST00000321728.7_Nonsense_Mutation_p.E282*	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	282					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAGCCAGGAGGAAGGCGAGTA	0.453000													4	82					0.014758	0.0150053	1	1	0
GNPTG	84572	broad.mit.edu	37	16	1412645	1412645	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:1412645G>C	ENST00000204679.4	+	9	686	c.643G>C	c.(643-645)Gat>Cat	p.D215H		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	215						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ACTTTTTGAGGATGCTGGCTA	0.592000													5	56					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31850753	31850753	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:31850753C>G	ENST00000395728.3	-	23	3198	c.3199G>C	c.(3199-3201)Gag>Cag	p.E1067Q	EHMT2_ENST00000375530.4_Missense_Mutation_p.E976Q|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.E1033Q|EHMT2_ENST00000375537.4_Missense_Mutation_p.E1010Q			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1010	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCGGAGGCTCAATCTTGTTA	0.572000													3	36					0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62006667	62006667	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:62006667C>G	ENST00000006750.3	-	6	701	c.609G>C	c.(607-609)caG>caC	p.Q203H	CD79B_ENST00000392795.3_Missense_Mutation_p.Q204H|CD79B_ENST00000349817.2_Missense_Mutation_p.Q99H	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	203	ITAM.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						AGGTGGCTGTCTGGTCAATGT	0.597000			"""Mis, O"""		DLBCL								7	220					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129874909	129874909	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:129874909C>G	ENST00000254667.3	+	18	1921	c.1642C>G	c.(1642-1644)Cat>Gat	p.H548D	PTPRE_ENST00000419012.2_Missense_Mutation_p.H548D|PTPRE_ENST00000306042.5_Missense_Mutation_p.H490D	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	548	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CTCAGTTACTCATGGAGAAAT	0.373000													7	71					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821415	72821415	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:72821415G>A	ENST00000268489.5	-	10	11432	c.10760C>T	c.(10759-10761)tCg>tTg	p.S3587L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.S2673L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3587					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCAGACTGCGAGGTAGATGC	0.612000													8	117					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19332152	19332152	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:19332152G>A	ENST00000380432.2	+	13	1755	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	DENND4C_ENST00000434457.2_Missense_Mutation_p.M810I|DENND4C_ENST00000602925.1_Missense_Mutation_p.M810I			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	574						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTATTAAGATGAGGAAAACAG	0.333000													6	61					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51287548	51287548	+	Silent	SNP	G	G	A	rs150939169		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:51287548G>A	ENST00000395542.2	-	2	319	c.135C>T	c.(133-135)ctC>ctT	p.L45L	COBL_ENST00000441453.1_Silent_p.L45L|COBL_ENST00000265136.7_Silent_p.L45L|COBL_ENST00000395540.2_Silent_p.L45L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	45										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCTGCGACCCGAGGGCCCCAT	0.622000													7	80					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15774271	15774271	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:15774271C>G	ENST00000281172.5	-	21	2885	c.2449G>C	c.(2449-2451)Gat>Cat	p.D817H	EPS8_ENST00000540613.1_Missense_Mutation_p.D557H|EPS8_ENST00000543612.1_Missense_Mutation_p.D817H|EPS8_ENST00000543523.1_Missense_Mutation_p.D817H|EPS8_ENST00000542903.1_Missense_Mutation_p.D557H	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	817					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTTCCTTCATCAAAAGATTCC	0.388000													3	30					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138914337	138914337	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:138914337G>A	ENST00000327569.3	-	1	110	c.12C>T	c.(10-12)gtC>gtT	p.V4V	ATP11C_ENST00000359686.2_Silent_p.V4V|ATP11C_ENST00000361648.2_Silent_p.V4V|ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000370543.1_Silent_p.V4V	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	4					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGAGAGATGGGACCATCTGCA	0.458000													9	16					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4513775	4513775	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:4513775C>G	ENST00000574733.1	-	5	1335	c.606G>C	c.(604-606)aaG>aaC	p.K202N	NMRAL1_ENST00000574425.1_Missense_Mutation_p.K202N|NMRAL1_ENST00000404295.3_Missense_Mutation_p.K202N|NMRAL1_ENST00000283429.6_Missense_Mutation_p.K202N			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	202						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						TTTCTGGCATCTTCAAAAGGC	0.607000													28	34					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77300508	77300508	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:77300508G>C	ENST00000388914.3	-	8	1116	c.964C>G	c.(964-966)Ctg>Gtg	p.L322V	CCDC158_ENST00000434846.2_Missense_Mutation_p.L322V	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	322										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GTAGATTCCAGATCGCTGAGC	0.398000													20	82					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229567793	229567793	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:229567793G>T	ENST00000366684.3	-	5	858	c.756C>A	c.(754-756)atC>atA	p.I252I	ACTA1_ENST00000366683.2_Silent_p.I164I	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	252					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GCTCGTTGCCGATGGTGATGA	0.706000													10	26					1.33987e-11	1.48249e-11	1	1	0
POLRMT	5442	broad.mit.edu	37	19	619676	619676	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:619676C>A	ENST00000588649.2	-	13	3060	c.2976G>T	c.(2974-2976)caG>caT	p.Q992H		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	992	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATCACCGTCTGCTTCACCA	0.667000													14	207					1.37285e-15	1.53724e-15	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12337987	12337987	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:12337987G>A	ENST00000358136.3	+	19	4472	c.4342G>A	c.(4342-4344)Gaa>Aaa	p.E1448K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1448K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1448					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTGGGTCTGAAGGAAGCCG	0.473000													30	92					0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32955340	32955340	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:32955340C>G	ENST00000399302.2	+	4	2484	c.2149C>G	c.(2149-2151)Cag>Gag	p.Q717E	QSER1_ENST00000527788.1_Missense_Mutation_p.Q478E	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	717	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GCATGGCCATCAGGCATCTCT	0.418000													21	53					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65184665	65184665	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:65184665G>A	ENST00000358691.5	-	12	1098	c.932C>T	c.(931-933)gCa>gTa	p.A311V	HELZ_ENST00000580168.1_Missense_Mutation_p.A311V	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGCAGATATTGCAATGATACT	0.393000													119	187					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729086	99729086	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:99729086G>A	ENST00000389677.5	-	6	1466	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L	FAXC_ENST00000538471.1_Missense_Mutation_p.S115L|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	395																	GTCCACATCCGAATCAAAGAG	0.502000													4	57					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918658	196918658	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:196918658A>G	ENST00000367415.5	+	2	232	c.132A>G	c.(130-132)caA>caG	p.Q44Q	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Silent_p.Q44Q|CFHR2_ENST00000367421.3_Silent_p.Q44Q	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2		Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						CATTTTCCCAAGTTCCTACAG	0.353000													3	37					0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53878082	53878082	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53878082C>T	ENST00000267079.2	-	8	1333	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	MAP3K12_ENST00000547488.1_Missense_Mutation_p.D403N|MAP3K12_ENST00000547035.1_Missense_Mutation_p.D403N	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	370					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGAGTACATCAGCTGAGGCA	0.483000													6	38					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21938974	21938974	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:21938974G>A	ENST00000328843.6	+	81	13122	c.13091G>A	c.(13090-13092)cGa>cAa	p.R4364Q	DNAH11_ENST00000409508.3_Missense_Mutation_p.R4357Q			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4364					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTCCTCCTGCGATGCCGAGAA	0.498000									Kartagener syndrome				9	176					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967294	142967294	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:142967294A>G	ENST00000370494.1	+	1	122	c.92A>G	c.(91-93)aAc>aGc	p.N31S		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	31							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAAGCAACGCCCGTTAT	0.498000													21	75					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156446	106156446	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:106156446G>C	ENST00000513237.1	+	3	2207	c.1410G>C	c.(1408-1410)gtG>gtC	p.V470V	TET2_ENST00000545826.1_Silent_p.V449V|TET2_ENST00000380013.4_Silent_p.V449V|TET2_ENST00000413648.2_Silent_p.V449V|TET2_ENST00000305737.2_Silent_p.V449V|TET2_ENST00000540549.1_Silent_p.V449V|TET2_ENST00000394764.1_Silent_p.V449V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	449					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TAAGGGAAGTGAAAATAGAGG	0.453000			"""Mis N, F"""		MDS								10	41					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082739	16082739	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:16082739G>C	ENST00000281043.3	+	2	850	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	185					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CCCGGCCGCCGAGTGCGTGGA	0.826000			A		neuroblastoma								4	13					0	0	1	0	0
IQCC	55721	broad.mit.edu	37	1	32673103	32673103	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:32673103G>C	ENST00000537469.1	+	5	1108	c.1061G>C	c.(1060-1062)aGa>aCa	p.R354T	IQCC_ENST00000291358.6_Missense_Mutation_p.R274T	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	274										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTAAGTGCAGAGAACCATGC	0.532000													4	58					0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000334128.2_Silent_p.L197L|HTR3D_ENST00000453435.1_Silent_p.L151L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCCCGGGTCTCACCCCCACCC	0.642000													4	50					0	0	1	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102040021	102040021	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:102040021G>C	ENST00000496391.1	+	7	1542	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	PRKRIP1_ENST00000462601.1_Missense_Mutation_p.E21Q|PRKRIP1_ENST00000354783.4_Missense_Mutation_p.E40Q|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000397912.3_Missense_Mutation_p.E78Q			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	78	Required for RNA-binding (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CGGCAGTGGAGAGTTCCACGT	0.532000													20	146					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153994695	153994695	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:153994695G>A	ENST00000368559.3	-	32	4494	c.4423C>T	c.(4423-4425)Cct>Tct	p.P1475S	NUP210L_ENST00000271854.3_Missense_Mutation_p.P1475S|NUP210L_ENST00000368553.1_Missense_Mutation_p.P408S	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1475						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ACAGCAACAGGAATATAATCT	0.488000													22	204					0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713786	32713786	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:32713786G>T	ENST00000374940.3	+	3	652	c.550G>T	c.(550-552)Gat>Tat	p.D184Y		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	184	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTTCTGCTGATGAGATTTA	0.493000													9	180					5.68852e-11	6.28073e-11	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55161320	55161320	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:55161320G>A	ENST00000257290.5	+	23	3482	c.3151G>A	c.(3151-3153)Gag>Aag	p.E1051K	FIP1L1_ENST00000507166.1_Missense_Mutation_p.E811K	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1051	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGTGCCATTGAGACGGGTTC	0.517000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			30	64					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148575335	148575335	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:148575335C>G	ENST00000322396.6	-	9	1955	c.1713G>C	c.(1711-1713)caG>caC	p.Q571H	TMEM184C_ENST00000508208.1_Intron|PRMT10_ENST00000541232.1_Missense_Mutation_p.Q458H	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	571						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAGTATTACTCTGTCCAGTTC	0.443000													3	46					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840025	57840025	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:57840025G>C	ENST00000321545.4	+	4	1540	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAAGTGCATGGAGTGTGGGAA	0.488000													11	52					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132270503	132270503	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:132270503G>C	ENST00000265343.5	-	3	633	c.254C>G	c.(253-255)tCa>tGa	p.S85*	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Nonsense_Mutation_p.S85*	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	85					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCATCTGCTGATGGTGGTAC	0.433000													24	39					0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598818	57598818	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:57598818G>C	ENST00000217133.1	+	4	605	c.336G>C	c.(334-336)ctG>ctC	p.L112L		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	112					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GAGCCGAGCTGATCGAGAATG	0.597000													29	114					0	0	1	0	0
GAREM	64762	broad.mit.edu	37	18	29867276	29867276	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:29867276A>G	ENST00000399218.4	-	4	1339	c.1284T>C	c.(1282-1284)gaT>gaC	p.D428D	GAREM_ENST00000269209.6_Silent_p.D428D	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CGCTCCCACTATCTCCAGAGT	0.547000													15	68					0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41257336	41257336	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41257336C>T	ENST00000243563.3	+	1	573	c.23C>T	c.(22-24)cCt>cTt	p.P8L	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	8						nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GAGACCCGCCCTAACCACACT	0.502000													53	246					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19378831	19378831	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:19378831G>A	ENST00000389363.4	-	7	747	c.675C>T	c.(673-675)ctC>ctT	p.L225L	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	225						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CAGCAAGGATGAGATATATGA	0.597000													19	47					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57179369	57179369	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:57179369C>G	ENST00000504228.1	+	5	466	c.361C>G	c.(361-363)Ccc>Gcc	p.P121A	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P114A|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P121A			Q6ZU35	K1211_HUMAN	KIAA1211	121										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					ACAGGTTGCTCCCGTTAAACC	0.537000													9	147					0	0	1	0	0
BBC3	27113	broad.mit.edu	37	19	47724989	47724989	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:47724989G>C	ENST00000449228.1	-	4	918	c.755C>G	c.(754-756)gCc>gGc	p.A252G	BBC3_ENST00000439096.2_3'UTR|BBC3_ENST00000341983.4_3'UTR|BBC3_ENST00000300880.7_Missense_Mutation_p.A92G	NM_001127240.2	NP_001120712.1	Q9BXH1	BBC3_HUMAN	BCL2 binding component 3	0					activation of caspase activity|activation of pro-apoptotic gene products|cellular response to hypoxia|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of growth|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|positive regulation of thymocyte apoptosis|protein insertion into mitochondrial membrane involved in induction of apoptosis|reduction of endoplasmic reticulum calcium ion concentration|release of cytochrome c from mitochondria|release of sequestered calcium ion into cytosol	cytosol|mitochondrial outer membrane	protein binding			endometrium(1)|lung(2)|skin(1)	4		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.000179)|OV - Ovarian serous cystadenocarcinoma(262;0.00029)|Epithelial(262;0.0103)|GBM - Glioblastoma multiforme(486;0.0234)		CCCCGCGCTGGCCAGGGTGTC	0.716000													4	30					0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40186253	40186253	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:40186253C>G	ENST00000360214.3	+	5	701	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E	ETS2_ENST00000360938.3_Missense_Mutation_p.Q81E	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	81					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGTGATGAGTCAAGCCTTAAA	0.512000													4	102					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17948818	17948818	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:17948818C>T	ENST00000458235.1	-	12	1723	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	JAK3_ENST00000534444.1_Missense_Mutation_p.E542K|JAK3_ENST00000527670.1_Missense_Mutation_p.E542K	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	542	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TCCACCACCTCATGGCGACAG	0.577000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								22	191					0	0	1	0	0
COQ4	51117	broad.mit.edu	37	9	131095147	131095147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:131095147G>A	ENST00000300452.3	+	6	874	c.551G>A	c.(550-552)tGg>tAg	p.W184*	COQ4_ENST00000461102.1_3'UTR	NM_016035.3	NP_057119	Q9Y3A0	COQ4_HUMAN	coenzyme Q4	184					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GTGGTGAAATGGTTTGAGGCT	0.547000													12	84					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98951563	98951563	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:98951563G>T	ENST00000432884.2	+	8	852	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	ARPC1A_ENST00000262942.5_Nonsense_Mutation_p.E178*|ARPC1A_ENST00000471960.1_3'UTR			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	178					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AGAAGTGGATGAAAAGCCAGC	0.483000													24	103					9.57634e-11	1.05554e-10	1	1	0
FBF1	85302	broad.mit.edu	37	17	73906817	73906817	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:73906817G>C	ENST00000586717.1	-	29	3662	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	RP11-552F3.12_ENST00000587556.1_Intron|FBF1_ENST00000319129.5_Missense_Mutation_p.S1130C|FBF1_ENST00000389570.4_Missense_Mutation_p.S1131C			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	1130										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTGAATGAGATGTCAAATT	0.572000													7	17					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69005847	69005847	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:69005847C>A	ENST00000288368.4	+	21	2535	c.2258C>A	c.(2257-2259)tCc>tAc	p.S753Y	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	753	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCAAGATTCCATACAATGG	0.428000													32	121					3.28013e-08	3.57173e-08	1	1	0
NTSR1	4923	broad.mit.edu	37	20	61341104	61341104	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:61341104G>A	ENST00000370501.3	+	1	916	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	182						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CTCATGTCCCGAAGCCGCACC	0.657000													5	116					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148858271	148858271	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:148858271G>A	ENST00000296051.2	+	2	838	c.698G>A	c.(697-699)aGa>aAa	p.R233K	HPS3_ENST00000460120.1_Intron	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	233						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AATCGAATAAGACGGACAGAA	0.388000									Hermansky-Pudlak syndrome				11	24					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31736937	31736937	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:31736937C>G	ENST00000375686.3	-	10	1598	c.1361G>C	c.(1360-1362)cGa>cCa	p.R454P	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.R454P|VWA7_ENST00000447450.1_Missense_Mutation_p.R454P	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	454						extracellular region											ACGCCGAGCTCGACCCTGAAC	0.517000													6	54					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133901821	133901821	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:133901821G>A	ENST00000361069.4	+	2	656	c.523G>A	c.(523-525)Gag>Aag	p.E175K	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	175	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CGGCCGGCCCGAGGGCCAGTA	0.677000													10	75					0	0	1	0	0
CFL2	1073	broad.mit.edu	37	14	35182575	35182575	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:35182575C>T	ENST00000341223.3	-	2	347	c.196G>A	c.(196-198)Gac>Aac	p.D66N	CFL2_ENST00000556161.1_Missense_Mutation_p.D49N|CFL2_ENST00000298159.6_Missense_Mutation_p.D66N|CFL2_ENST00000555765.1_Missense_Mutation_p.D49N	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	66	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		GTGTAGGGGTCCTCTACAGTA	0.403000													7	56					0	0	1	0	0
GNPAT	8443	broad.mit.edu	37	1	231377135	231377135	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:231377135C>A	ENST00000366647.4	+	1	180	c.11C>A	c.(10-12)tCc>tAc	p.S4Y	GNPAT_ENST00000366646.3_Missense_Mutation_p.S4Y	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	4	Poly-Ser.				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				ATGGAGTCTTCCAGTTCATCT	0.617000													10	142					7.48243e-07	8.07681e-07	1	1	0
ZNF425	155054	broad.mit.edu	37	7	148802215	148802215	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:148802215C>T	ENST00000378061.2	-	4	880	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	250					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCTCACACTCACTGCACTGG	0.572000													23	58					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153381912	153381912	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:153381912C>G	ENST00000351797.4	-	11	1231	c.1155G>C	c.(1153-1155)ctG>ctC	p.L385L	FAM114A2_ENST00000520667.1_Silent_p.L385L|FAM114A2_ENST00000520313.1_Silent_p.L315L|FAM114A2_ENST00000522858.1_Silent_p.L385L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	385							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AGCAGGCAGTCAGTTCAGCCA	0.453000													10	49					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574735	102574735	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:102574735C>G	ENST00000249377.4	+	2	656	c.375C>G	c.(373-375)ttC>ttG	p.F125L	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.F125L	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	125					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GTGAGGCGTTCTTTGGTTTAA	0.428000													19	59					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25455102	25455102	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:25455102G>C	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA	NR_003305.1																						CCTGAAGAGAGGTGATGACTT	0.507000													22	238					0	0	1	0	0
FANCF	2188	broad.mit.edu	37	11	22646347	22646347	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:22646347C>A	ENST00000327470.3	-	1	1040	c.1010G>T	c.(1009-1011)gGa>gTa	p.G337V		NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	337					DNA repair	nucleoplasm	protein binding			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						TTCAAAATCTCCATCCTGCGC	0.483000			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia		OREG0020844	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	137					4.68919e-08	5.10179e-08	1	1	0
PPEF1	5475	broad.mit.edu	37	X	18822141	18822141	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:18822141C>G	ENST00000361511.4	+	14	1691	c.1197C>G	c.(1195-1197)ctC>ctG	p.L399L	PPEF1_ENST00000359763.6_Silent_p.L346L|PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000544635.1_Silent_p.L334L|PPEF1_ENST00000349874.5_Intron	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	399	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TGAAGATGCTCATCAGGTCTC	0.423000													27	58					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269724	53269724	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:53269724G>A	ENST00000338230.3	-	3	1552	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TGAATTAGAAGATCTGAATTT	0.368000													34	31					0	0	1	0	0
LIN52	91750	broad.mit.edu	37	14	74567900	74567900	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:74567900G>A	ENST00000555028.1	+	5	421	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	LIN52_ENST00000554076.1_3'UTR	NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	85										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		GAGAAGGTTCGAGGCCTACAG	0.473000													16	95					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693644	45693644	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:45693644C>T	ENST00000310806.4	-	11	2604	c.2146G>A	c.(2146-2148)Gaa>Aaa	p.E716K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	716					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						AAGTCACGTTCATCGCAATCT	0.348000													8	41					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57311136	57311136	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:57311136G>A	ENST00000457912.1	+	3	826	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E258K|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E221K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	258										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCAGGACGTGGAAAAAGAGCC	0.622000													11	4					0	0	1	0	0
SCNM1	79005	broad.mit.edu	37	1	151139639	151139639	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:151139639G>C	ENST00000368905.4	+	4	365	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SCNM1_ENST00000461862.1_3'UTR	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	85					mRNA processing|RNA splicing	nucleus	metal ion binding|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAAGGAAAGAAAGCAGAAT	0.453000													10	279					0	0	1	0	0
PAEP	5047	broad.mit.edu	37	9	138454265	138454265	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:138454265C>T	ENST00000479141.1	+	2	266	c.222C>T	c.(220-222)atC>atT	p.I74I	PAEP_ENST00000277508.5_Silent_p.I74I|PAEP_ENST00000371766.2_Silent_p.I74I	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	74					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		ACCTGGAGATCGTTCTGCACA	0.627000													7	92					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242202290	242202290	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:242202290C>T	ENST00000391975.1	-	5	513	c.286G>A	c.(286-288)Gga>Aga	p.G96R	HDLBP_ENST00000427183.2_Missense_Mutation_p.G132R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G96R|HDLBP_ENST00000391976.2_Missense_Mutation_p.G96R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	96					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCACCTTCTCCAAACTGGTTC	0.438000													10	39					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10052690	10052690	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:10052690C>T	ENST00000256190.8	-	4	444	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	103					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTTTTGCTTCACCTTCAATC	0.368000													9	129					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44571289	44571289	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44571289G>A	ENST00000591793.1	+	7	1721	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	ZNF223_ENST00000434772.3_Silent_p.K436K			Q9UK11	ZN223_HUMAN	zinc finger protein 223	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GTGGAAAGAAGCTTGTATACC	0.423000													4	174					0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9265066	9265066	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:9265066C>G	ENST00000318602.7	-	3	644	c.337G>C	c.(337-339)Gaa>Caa	p.E113Q		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	113					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCTTAAATTCTTGGGTTGGT	0.458000													8	39					0	0	1	0	0
VPS26A	9559	broad.mit.edu	37	10	70930969	70930969	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:70930969C>T	ENST00000373382.1	+	10	1581	c.928C>T	c.(928-930)Cac>Tac	p.H310Y	VPS26A_ENST00000263559.6_Missense_Mutation_p.H310Y|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000546041.1_Missense_Mutation_p.H293Y|VPS26A_ENST00000541711.1_Missense_Mutation_p.H199Y|VPS26A_ENST00000395098.1_3'UTR|VPS26A_ENST00000489794.1_3'UTR			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	310					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AACAAACTTTCACCAGCGATT	0.358000													4	35					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9084334	9084334	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9084334G>A	ENST00000397910.4	-	1	7684	c.7481C>T	c.(7480-7482)tCt>tTt	p.S2494F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2494	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCACCACAGAATTGCTAGA	0.512000													8	66					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30651839	30651839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:30651839C>T	ENST00000389266.3	+	8	1250	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	337					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.R337*(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GATCTCCCCTCGATCTGGACT	0.403000													10	52					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69358955	69358955	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:69358955C>G	ENST00000193403.6	-	10	1284	c.901G>C	c.(901-903)Gtg>Ctg	p.V301L	ACTN1_ENST00000394419.4_Missense_Mutation_p.V301L|ACTN1_ENST00000538545.2_Missense_Mutation_p.V301L|ACTN1_ENST00000438964.2_Missense_Mutation_p.V301L|ACTN1_ENST00000376839.3_Missense_Mutation_p.V236L	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	301	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TTCTCGGGCACCCGGTTCTCC	0.652000													11	85					0	0	1	0	0
WDR45B	56270	broad.mit.edu	37	17	80606192	80606192	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:80606192G>A	ENST00000392325.4	-	1	219	c.25C>T	c.(25-27)Cac>Tac	p.H9Y		NM_019613.3	NP_062559.2			WD repeat domain 45B																		CCGTTGCCGTGAGGGTTACAC	0.736000													11	32					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	69583203	69583203	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:69583203G>A	ENST00000342771.4	+	3	929	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	AUTS2_ENST00000406775.2_Missense_Mutation_p.R203Q|AUTS2_ENST00000403018.2_Missense_Mutation_p.R203Q	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	203								p.R203L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGCAGCTCTCGGGAAAGGCTC	0.433000													3	53					0	0	1	0	0
OFD1	8481	broad.mit.edu	37	X	13754644	13754644	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:13754644G>C	ENST00000340096.6	+	3	486	c.159G>C	c.(157-159)ttG>ttC	p.L53F	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.L53F|OFD1_ENST00000398395.3_Missense_Mutation_p.L53F|OFD1_ENST00000380567.1_5'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	53					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACCCTGTATTGAGTGGAGAAC	0.403000													10	190					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35703835	35703835	+	Silent	SNP	C	C	T	rs138119130		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:35703835C>T	ENST00000314888.9	-	47	6647	c.6294G>A	c.(6292-6294)acG>acA	p.T2098T	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Silent_p.T1992T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2098					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCAGCCTTCGTTGCACTGA	0.532000													4	70					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406311	55406311	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:55406311C>G	ENST00000314612.2	+	1	478	c.478C>G	c.(478-480)Ctc>Gtc	p.L160V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCAGTTTCTTCTCACCATCTT	0.398000													11	97					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118455280	118455280	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:118455280C>T	ENST00000369443.5	-	4	591	c.342G>A	c.(340-342)ttG>ttA	p.L114L	GDAP2_ENST00000369442.3_Silent_p.L114L	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2		Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATCCTTTTGTCAATTTTGCTT	0.408000													13	51					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25443172	25443172	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:25443172C>G	ENST00000278886.6	-	20	3502	c.3429G>C	c.(3427-3429)caG>caC	p.Q1143H	NINL_ENST00000422516.1_Missense_Mutation_p.Q794H	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1143					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTTGTAGTTCTGATTCTGGG	0.373000													30	139					0	0	1	0	0
DDAH1	23576	broad.mit.edu	37	1	85824477	85824477	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:85824477C>A	ENST00000284031.8	-	2	451	c.357G>T	c.(355-357)atG>atT	p.M119I	DDAH1_ENST00000426972.3_Missense_Mutation_p.M26I|RP11-131L23.1_ENST00000427819.1_RNA|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.M16I|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Missense_Mutation_p.M19I|DDAH1_ENST00000539042.1_Missense_Mutation_p.M119I	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	119					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTTCATCTTTCATCTCTACTA	0.294000													8	52					3.09899e-07	3.35488e-07	1	1	0
RNF6	6049	broad.mit.edu	37	13	26793693	26793693	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:26793693C>G	ENST00000381588.4	-	3	846	c.94G>C	c.(94-96)Gag>Cag	p.E32Q	RNF6_ENST00000381570.3_Missense_Mutation_p.E32Q|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.E32Q|RNF6_ENST00000399762.2_5'UTR	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	32					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TGGAGACGCTCTTGCTGCCAT	0.418000													39	88					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112623205	112623205	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:112623205C>T	ENST00000550722.1	-	61	9522	c.9127G>A	c.(9127-9129)Gag>Aag	p.E3043K	HECTD4_ENST00000430131.2_Missense_Mutation_p.E2767K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E3017K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		CGCCTCTGCTCCAGGGTGTGC	0.627000													4	30					0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89950993	89950993	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:89950993C>A	ENST00000263346.8	+	3	414	c.358C>A	c.(358-360)Cat>Aat	p.H120N	TCF25_ENST00000563406.1_3'UTR	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	120					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCATTAGTCTCATGCAAGTGG	0.433000													5	26					3.59834e-05	3.7993e-05	1	1	0
TOPBP1	11073	broad.mit.edu	37	3	133336118	133336118	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:133336118G>C	ENST00000260810.5	-	22	3776	c.3645C>G	c.(3643-3645)atC>atG	p.I1215M		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1215					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GTTCTTCAGAGATTGGGTGTT	0.507000								Other conserved DNA damage response genes					8	28					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26463619	26463619	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:26463619C>T	ENST00000429381.1	+	4	790	c.578C>T	c.(577-579)tCc>tTc	p.S193F	BTN2A1_ENST00000312541.5_Missense_Mutation_p.S193F|BTN2A1_ENST00000541522.1_Missense_Mutation_p.S132F|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S193F			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	193					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AAAGAGGTCTCCATGCCTGAT	0.577000													12	81					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26443856	26443856	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:26443856C>A	ENST00000244519.2	+	3	297	c.54C>A	c.(52-54)ctC>ctA	p.L18L	BTN3A3_ENST00000339789.4_Intron|BTN3A3_ENST00000361232.3_Intron	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	18						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						ATGTCTCCCTCTTCTTGGTCC	0.423000													4	58					0.150653	0.15135	1	1	0
ZNF566	84924	broad.mit.edu	37	19	36940886	36940886	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:36940886C>G	ENST00000454319.1	-	5	387	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	ZNF566_ENST00000434377.2_Missense_Mutation_p.E84Q|ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000392170.2_Missense_Mutation_p.E85Q|ZNF566_ENST00000424129.2_Missense_Mutation_p.E84Q	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TTCTTGGTCTCACATCTTGAT	0.333000													9	78					0	0	1	0	0
RAD51	5888	broad.mit.edu	37	15	41023326	41023326	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:41023326G>A	ENST00000267868.3	+	10	1238	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	RAD51_ENST00000530766.1_3'UTR|RAD51_ENST00000423169.2_3'UTR|RAD51_ENST00000532743.1_Missense_Mutation_p.E325K|RAD51_ENST00000557850.1_Missense_Mutation_p.E227K|RAD51_ENST00000382643.3_Missense_Mutation_p.E325K	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	324					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		TCCTGAAGCTGAAGCTATGTT	0.448000								Homologous recombination					5	38					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37198950	37198950	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:37198950G>T	ENST00000274258.7	-	20	3756	c.169C>A	c.(169-171)Ctt>Att	p.L57I	C5orf42_ENST00000508244.1_Missense_Mutation_p.L1176I|C5orf42_ENST00000425232.2_Missense_Mutation_p.L1176I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1176										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTTTTAAAAGAAGATCATCA	0.363000													14	38					9.31168e-06	9.9444e-06	1	1	0
MZF1	7593	broad.mit.edu	37	19	59074569	59074569	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:59074569C>G	ENST00000215057.2	-	6	1635	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.D359H|MZF1_ENST00000594234.1_Silent_p.A277A	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	359					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CCACATACATCGCAACGGCCG	0.692000													5	31					0	0	1	0	0
ASB6	140459	broad.mit.edu	37	9	132400323	132400323	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:132400323G>C	ENST00000277458.4	-	6	1177	c.1012C>G	c.(1012-1014)Cag>Gag	p.Q338E	ASB6_ENST00000450050.2_Missense_Mutation_p.Q259E|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	338					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				TGGAGTTTCTGAGAGTTGGTC	0.582000													20	111					0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508545	48508545	+	Missense_Mutation	SNP	G	G	A	rs143885312	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:48508545G>A	ENST00000296443.9	+	3	1378	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	TREX1_ENST00000456089.1_Missense_Mutation_p.R25Q|TREX1_ENST00000422277.2_Missense_Mutation_p.R219Q|TREX1_ENST00000433541.1_Missense_Mutation_p.R25Q|TREX1_ENST00000444177.1_Missense_Mutation_p.R154Q|TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000436480.2_Missense_Mutation_p.R164Q			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	219					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCCTGGAGCGAGCAAGCAGC	0.612000													9	80					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109604795	109604795	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:109604795G>A	ENST00000338432.7	+	3	902	c.783G>A	c.(781-783)gaG>gaA	p.E261E	ACACB_ENST00000377854.5_Silent_p.E261E|ACACB_ENST00000377848.3_Silent_p.E261E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	261	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGGTCATCGAGAAGGTACAGA	0.602000													7	68					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129137120	129137120	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:129137120C>G	ENST00000505956.1	-	3	820	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	EFCAB12_ENST00000326085.3_Missense_Mutation_p.E220Q	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12																		GCGATGAACTCCTCCCTGGTG	0.552000													15	20					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37627460	37627460	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37627460G>C	ENST00000447079.4	+	2	1408	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H	CDK12_ENST00000430627.2_Missense_Mutation_p.D459H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	459					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATCTGCCCCAGATACTGAACT	0.378000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			33	150					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156108870	156108870	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156108870G>A	ENST00000368300.4	+	12	2180		c.e12-1		LMNA_ENST00000347559.2_Splice_Site|LMNA_ENST00000368299.3_Splice_Site|LMNA_ENST00000473598.2_Splice_Site|LMNA_ENST00000496738.1_Splice_Site|LMNA_ENST00000448611.2_Splice_Site	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C						cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TTCTCTCTTAGAGCCCCCAGA	0.637000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				10	100					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118637039	118637039	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:118637039C>T	ENST00000392533.3	-	13	1501	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	TAOK3_ENST00000419821.2_Silent_p.L337L	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	337					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTCCCTGTTCAGGCTGGTTC	0.483000													8	33					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160248661	160248661	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:160248661G>C	ENST00000334256.4	-	7	756	c.451C>G	c.(451-453)Caa>Gaa	p.Q151E		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	151	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			ACTACTGCTTGAGTTTGTTCA	0.323000													6	33					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215844548	215844548	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:215844548C>G	ENST00000366943.2	-	64	14285	c.13899G>C	c.(13897-13899)ttG>ttC	p.L4633F	USH2A_ENST00000307340.3_Missense_Mutation_p.L4633F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4633	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGGTTGCATCAAAGGTGCAA	0.493000										HNSCC(13;0.011)			12	69					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992664	96992664	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:96992664G>A	ENST00000361124.4	+	1	730	c.319G>A	c.(319-321)Gat>Aat	p.D107N	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.D91N|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.D91N|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.D99N	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	99						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTTCCAGGCCGATGGCCAGGA	0.567000													22	86					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112350863	112350863	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:112350863C>T	ENST00000361804.4	+	17	1911	c.1785C>T	c.(1783-1785)gtC>gtT	p.V595V		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	595	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGTTAGATGTCAGGGATACAG	0.333000													5	18					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108106483	108106483	+	Missense_Mutation	SNP	G	G	C	rs55633650		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:108106483G>C	ENST00000278616.4	+	5	803	c.418G>C	c.(418-420)Gat>Cat	p.D140H	ATM_ENST00000452508.2_Missense_Mutation_p.D140H	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	140			D -> H.		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTACGGAGCTGATTGTAGCAA	0.343000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			31	34					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693140	45693140	+	Missense_Mutation	SNP	C	C	G	rs139135374		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:45693140C>G	ENST00000310806.4	-	11	3108	c.2650G>C	c.(2650-2652)Gag>Cag	p.E884Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	884	SANT.				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TTCTGTAACTCCTTCTCATTC	0.368000													3	41					0	0	1	0	0
RHOQ	23433	broad.mit.edu	37	2	46803241	46803241	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:46803241C>T	ENST00000238738.4	+	3	536	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L	RHOQ_ENST00000465198.1_3'UTR|RP11-417F21.1_ENST00000506009.2_RNA	NM_012249.3	NP_036381.2	P17081	RHOQ_HUMAN	ras homolog family member Q	73					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CTATGACCGTCTGAGGCCTTT	0.383000													24	22					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32828523	32828523	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:32828523G>C	ENST00000380250.3	+	51	7904	c.7408G>C	c.(7408-7410)Gat>Cat	p.D2470H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGAGCTGGAGGATGGAGAGGT	0.443000													4	140					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109359672	109359672	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:109359672C>G	ENST00000370001.3	-	15	2645	c.2377G>C	c.(2377-2379)Gag>Cag	p.E793Q	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	793										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTCCTCACCTCAGATTTTATT	0.433000													3	29					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49033862	49033862	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:49033862G>T	ENST00000267163.4	+	20	2137	c.1999G>T	c.(1999-2001)Gaa>Taa	p.E667*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	667	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TACACTTTGTGAACGCCTTCT	0.393000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			28	11					2.61193e-14	2.92218e-14	1	1	0
ADCY8	114	broad.mit.edu	37	8	132051980	132051980	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:132051980G>A	ENST00000286355.5	-	1	2692	c.600C>T	c.(598-600)caC>caT	p.H200H	ADCY8_ENST00000377928.3_Silent_p.H200H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	200					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 membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCAGGCTCAAGTGTAGGACCA	0.587000										HNSCC(32;0.087)			14	71					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47776023	47776023	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:47776023C>T	ENST00000376954.1	+	6	2346	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y	ZNF81_ENST00000338637.7_Missense_Mutation_p.H660Y			P51508	ZNF81_HUMAN	zinc finger protein 81	660						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCGCAATATTCATACATGAAA	0.363000													4	22					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131016938	131016938	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:131016938C>T	ENST00000372923.3	+	22	2632	c.2540C>T	c.(2539-2541)tCg>tTg	p.S847L	DNM1_ENST00000486160.1_Missense_Mutation_p.S847L|DNM1_ENST00000393594.3_3'UTR|DNM1_ENST00000341179.7_3'UTR	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	847					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GCCAGCCGATCGGGTCAGGCA	0.627000													7	90					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575135	61575135	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:61575135G>C	ENST00000398571.2	-	15	2231	c.2155C>G	c.(2155-2157)Cag>Gag	p.Q719E		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	719					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAAGACTCCTGAGACCCTTGT	0.428000													7	183					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26225334	26225334	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:26225334C>G	ENST00000056233.3	+	4	2275	c.2016C>G	c.(2014-2016)atC>atG	p.I672M		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	672					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ATGGAAGTATCTTGATAGTAC	0.413000													7	85					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12043881	12043881	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:12043881G>T	ENST00000396373.4	+	8	1534	c.1260G>T	c.(1258-1260)atG>atT	p.M420I		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	420						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAGGTTTATGAAAACCCCAG	0.433000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								13	305					1.5842e-08	1.73009e-08	1	1	0
NBAS	51594	broad.mit.edu	37	2	15534408	15534408	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:15534408G>C	ENST00000281513.5	-	28	3225	c.3200C>G	c.(3199-3201)tCt>tGt	p.S1067C	NBAS_ENST00000441750.1_Missense_Mutation_p.S947C	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1067										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGAGCTAGATTGAGTGTT	0.353000													3	30					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111639242	111639242	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:111639242G>C	ENST00000431670.2	+	5	2388	c.1977G>C	c.(1975-1977)aaG>aaC	p.K659N	PHLDB2_ENST00000481953.1_Missense_Mutation_p.K659N|PHLDB2_ENST00000393923.3_Missense_Mutation_p.K686N|PHLDB2_ENST00000393925.3_Missense_Mutation_p.K659N|PHLDB2_ENST00000495180.1_Missense_Mutation_p.K245N|PHLDB2_ENST00000412622.1_Missense_Mutation_p.K659N	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	659						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AACTGGAAAAGAACATTGTTG	0.353000													15	43					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4323176	4323176	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:4323176C>G	ENST00000221856.6	+	11	1380	c.1233C>G	c.(1231-1233)gtC>gtG	p.V411V	FSD1_ENST00000597590.1_Intron	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	411	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAACAAGGTCAAGGTGCTGG	0.657000													4	106					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223489020	223489020	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:223489020G>C	ENST00000281828.6	-	12	1404	c.1141C>G	c.(1141-1143)Ctc>Gtc	p.L381V	FARSB_ENST00000536361.1_Missense_Mutation_p.L282V	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	381					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTTTTCGGGAGAGTCATCTGA	0.373000													4	71					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29797414	29797414	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:29797414G>C	ENST00000428701.1	+	5	1017	c.839G>C	c.(838-840)aGa>aCa	p.R280T	HLA-G_ENST00000360323.6_Missense_Mutation_p.R280T|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.R285T|HLA-G_ENST00000376818.3_Missense_Mutation_p.R188T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	280	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAGGAGCAGAGATACACGTGC	0.602000													8	136					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38854631	38854631	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:38854631G>C	ENST00000359357.3	+	55	7927	c.7673G>C	c.(7672-7674)gGa>gCa	p.G2558A	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2775A|DNAH8_ENST00000441566.1_Missense_Mutation_p.G2522A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GACAAGCCTGGAGACTTCACT	0.388000													3	63					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113801733	113801733	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:113801733G>T	ENST00000375559.3	+	7	826	c.788G>T	c.(787-789)gGa>gTa	p.G263V	F10_ENST00000375551.3_Missense_Mutation_p.G263V|F10_ENST00000409306.1_Missense_Mutation_p.G263V	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	263	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGTGGTGGAACCATTCTG	0.552000													12	41					1.61879e-10	1.78279e-10	1	1	0
SFI1	9814	broad.mit.edu	37	22	32009819	32009819	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:32009819G>A	ENST00000432498.1	+	26	3274	c.2881G>A	c.(2881-2883)Gag>Aag	p.E961K	SFI1_ENST00000443326.1_Missense_Mutation_p.E910K|SFI1_ENST00000400288.2_Missense_Mutation_p.E992K|SFI1_ENST00000414585.1_Missense_Mutation_p.E839K|SFI1_ENST00000540643.1_Missense_Mutation_p.E937K|SFI1_ENST00000400289.1_Missense_Mutation_p.E910K|SFI1_ENST00000443011.1_Missense_Mutation_p.E839K	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	992					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCTGGCTGCTGAGGAGCCCCA	0.632000											OREG0003527	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	4	8					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904635	5904635	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:5904635G>C	ENST00000378961.4	+	4	2049	c.1845G>C	c.(1843-1845)aaG>aaC	p.K615N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	615						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ACTACAGGAAGAAGTCAGCTG	0.542000													5	45					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44459467	44459467	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:44459467C>G	ENST00000378551.2	+	6	1559	c.1147C>G	c.(1147-1149)Cta>Gta	p.L383V	PPM1B_ENST00000378540.4_Intron	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	383					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCTGGAGATCTAGAAGACCC	0.333000													8	112					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40362502	40362502	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:40362502C>A	ENST00000293328.3	-	14	1862	c.1694G>T	c.(1693-1695)gGa>gTa	p.G565V		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	565					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	GTAATTCCGTCCTGGTAAATT	0.358000													5	92					0.00116845	0.00120541	1	1	0
PPP1R12B	4660	broad.mit.edu	37	1	202400648	202400648	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:202400648C>T	ENST00000608999.1	+	8	1195	c.1042C>T	c.(1042-1044)Caa>Taa	p.Q348*	PPP1R12B_ENST00000480184.1_Nonsense_Mutation_p.Q348*|PPP1R12B_ENST00000336894.4_Nonsense_Mutation_p.Q348*|PPP1R12B_ENST00000356764.2_Nonsense_Mutation_p.Q348*	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B		Glu-rich.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCTAAGTCCCAAGAAATGGA	0.403000													14	36					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43708284	43708284	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:43708284G>C	ENST00000405312.3	-	2	421	c.184C>G	c.(184-186)Ctt>Gtt	p.L62V	PSG4_ENST00000433626.2_Missense_Mutation_p.L62V|PSG4_ENST00000244295.9_Missense_Mutation_p.L62V	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	62	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TAGCCAGCAAGATTCTGGGGC	0.448000													41	315					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122526107	122526107	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:122526107G>A	ENST00000334010.7	-	1	706	c.285C>T	c.(283-285)atC>atT	p.I95I	CADPS2_ENST00000313070.7_Silent_p.I95I|CADPS2_ENST00000412584.2_Silent_p.I95I|CADPS2_ENST00000449022.2_Silent_p.I95I	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	95					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	p.I95I(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGGGTACGCGATGCACCTCA	0.667000													3	17					0	0	1	0	0
DDI2	84301	broad.mit.edu	37	1	15960017	15960017	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:15960017C>G	ENST00000480945.1	+	4	760	c.589C>G	c.(589-591)Ccc>Gcc	p.P197A		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	197					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TTCTGCTGATCCCTTTGACCT	0.443000													26	264					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4731656	4731656	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:4731656G>C	ENST00000399577.5	+	13	1330	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	MGRN1_ENST00000415496.1_Missense_Mutation_p.E392Q|MGRN1_ENST00000586183.1_Missense_Mutation_p.E391Q|MGRN1_ENST00000588994.1_Missense_Mutation_p.E391Q|MGRN1_ENST00000262370.7_Missense_Mutation_p.E413Q	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	413					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TCTTTATGAAGAAATCACCTA	0.657000													5	93					0	0	1	0	0
C9orf170	401535	broad.mit.edu	37	9	89771535	89771535	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:89771535G>C	ENST00000375941.2	+	2	303	c.216G>C	c.(214-216)caG>caC	p.Q72H		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	72										large_intestine(3)|lung(2)|prostate(1)	6						aggatatccagattgacaact	0.383000													4	16					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716965	153716965	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:153716965G>A	ENST00000263512.4	-	2	813	c.315C>T	c.(313-315)ctC>ctT	p.L105L	SLC10A3_ENST00000369649.4_Silent_p.L105L|SLC10A3_ENST00000393587.4_Silent_p.L105L|SLC10A3_ENST00000393586.1_Silent_p.L160L	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	105					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGTGACCCTGAGCATGGGGC	0.602000													12	95					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45669324	45669324	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:45669324C>T	ENST00000322157.4	+	11	1500	c.1263C>T	c.(1261-1263)gtC>gtT	p.V421V	NPEPPS_ENST00000544660.1_Silent_p.V341V|NPEPPS_ENST00000530173.1_Silent_p.V417V|NPEPPS_ENST00000525037.1_3'UTR	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	421					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TCTGCCAGGTCAGTGTGGGCC	0.418000													7	44					0	0	1	0	0
HSPA1L	3305	broad.mit.edu	37	6	31778156	31778156	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:31778156C>T	ENST00000375654.4	-	2	1783	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E532K	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	532					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTCTGGACCTCATCTTCAGCT	0.448000													44	140					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33293680	33293680	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:33293680A>T	ENST00000280979.4	+	13	6831	c.6661A>T	c.(6661-6663)Aga>Tga	p.R2221*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2221					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCTCAGGAAAGAGCTGAGGT	0.448000													10	40					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	970232	970232	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:970232C>G	ENST00000537687.1	+	7	2317	c.1674C>G	c.(1672-1674)atC>atG	p.I558M	WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Missense_Mutation_p.I151M|WNK1_ENST00000315939.6_Missense_Mutation_p.I558M|WNK1_ENST00000530271.2_Missense_Mutation_p.I558M|WNK1_ENST00000535572.1_Missense_Mutation_p.I558M	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	558					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTAAAGCTATCAAAGACAGAG	0.408000													34	232					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892758	74892758	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:74892758C>G	ENST00000241436.4	+	13	2412	c.2240C>G	c.(2239-2241)tCt>tGt	p.S747C	POLK_ENST00000504026.1_Intron|POLK_ENST00000352007.5_Missense_Mutation_p.S549C|POLK_ENST00000508526.1_Missense_Mutation_p.S549C|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Missense_Mutation_p.S657C	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	747					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AATTCTTCTTCTACTGTTTCA	0.373000								DNA polymerases (catalytic subunits)					5	46					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47278983	47278983	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:47278983G>A	ENST00000542575.2	-	8	2038	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	SLC1A5_ENST00000434726.2_Silent_p.L268L|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Silent_p.L294L|SLC1A5_ENST00000412532.2_Silent_p.L242L	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	470					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTTCTACATTGAGGACGGTAC	0.552000													24	69					0	0	1	0	0
ZFP69	339559	broad.mit.edu	37	1	40955266	40955266	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:40955266G>C	ENST00000372706.1	+	5	1418	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	ZFP69_ENST00000372705.3_Missense_Mutation_p.E138Q|ZFP69_ENST00000482712.1_3'UTR					ZFP69 zinc finger protein																		ATGGATGGCAGAGAAAGAAGG	0.383000													5	66					0	0	1	0	0
RNF169	254225	broad.mit.edu	37	11	74546921	74546921	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:74546921G>C	ENST00000299563.4	+	6	1286	c.1273G>C	c.(1273-1275)Gag>Cag	p.E425Q		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	425							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						GACTTCTTATGAGGCCAGTCC	0.498000													30	111					0	0	1	0	0
TSPYL4	23270	broad.mit.edu	37	6	116575046	116575046	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:116575046C>G	ENST00000420283.1	-	1	215	c.126G>C	c.(124-126)gcG>gcC	p.A42A		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	42					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCACCTGTGTCGCCTCGGTTT	0.682000													10	10					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717553	73717553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:73717553G>T	ENST00000264448.6	+	10	8575	c.8464G>T	c.(8464-8466)Gag>Tag	p.E2822*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2780*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2822					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGTCATTCTGAGCCCAGTAC	0.403000													5	77					0.014758	0.0150053	1	1	0
HERC4	26091	broad.mit.edu	37	10	69804185	69804185	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:69804185G>C	ENST00000395198.3	-	4	609	c.362C>G	c.(361-363)tCa>tGa	p.S121*	HERC4_ENST00000412272.2_Nonsense_Mutation_p.S121*|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000373700.4_Nonsense_Mutation_p.S121*	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	121					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GCATTCCTCTGATCCTACCAG	0.423000													9	34					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122170865	122170865	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:122170865C>G	ENST00000344337.6	-	7	787	c.611G>C	c.(610-612)aGg>aCg	p.R204T	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	204	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		GACATAGTCCCTGCACATGGT	0.363000													7	149					0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3740850	3740850	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3740850G>A	ENST00000246957.5	-	2	313	c.225C>T	c.(223-225)atC>atT	p.I75I	TRAP1_ENST00000538171.1_Intron	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	75					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CTGTGCTGCTGATAATCGAGT	0.597000											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	101					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47086256	47086256	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:47086256C>G	ENST00000457458.2	+	11	1521	c.1101C>G	c.(1099-1101)ctC>ctG	p.L367L	CDK16_ENST00000518022.1_Silent_p.L361L|CDK16_ENST00000357227.4_Silent_p.L361L|CDK16_ENST00000276052.6_Silent_p.L435L	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	361	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GCCGTCCCCTCTTTCCGGGCT	0.607000													6	45					0	0	1	0	0
ADIPOR2	79602	broad.mit.edu	37	12	1889746	1889746	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:1889746C>T	ENST00000357103.4	+	5	844	c.593C>T	c.(592-594)tCa>tTa	p.S198L		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	198					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity	p.S198L(1)		endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CTTTCTTTTTCATGGCTCTTC	0.438000													22	153					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171557607	171557607	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:171557607G>T	ENST00000367742.3	+	33	8404	c.8162G>T	c.(8161-8163)aGa>aTa	p.R2721I	PRRC2C_ENST00000338920.4_Missense_Mutation_p.R2719I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R2654I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R2721I			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2719							protein C-terminus binding										GCCACTGTGAGAATGACACAA	0.418000													15	86					0.000219431	0.000229918	1	1	0
SCCPDH	51097	broad.mit.edu	37	1	246890254	246890254	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:246890254C>T	ENST00000366510.3	+	2	627	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	84						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	p.S84L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AATCCAGCCTCGCTTGATGAA	0.383000													4	30					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301666	191301666	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:191301666C>A	ENST00000392328.1	+	3	1235	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	MFSD6_ENST00000281416.7_Missense_Mutation_p.S304Y	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	304					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TTCAGTGCCTCTTCTGTCACA	0.473000													44	83					2.38262e-10	2.62179e-10	1	1	0
EMR1	2015	broad.mit.edu	37	19	6926454	6926454	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:6926454G>A	ENST00000312053.4	+	16	2101	c.2064G>A	c.(2062-2064)gtG>gtA	p.V688V	EMR1_ENST00000250572.8_Silent_p.V623V|EMR1_ENST00000381407.5_Silent_p.V547V|EMR1_ENST00000381404.4_Silent_p.V636V|EMR1_ENST00000450315.3_Silent_p.V511V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	688					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGAGGCTGTGATACTGTTCT	0.532000													24	58					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100086632	100086632	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:100086632G>C	ENST00000415585.2	+	10	1100	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	CSTF2_ENST00000372972.2_Missense_Mutation_p.E340Q			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	340	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TGTAACTGGAGAGGTAGAGCC	0.483000													6	54					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197313	132197313	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:132197313C>T	ENST00000378673.2	-	3	2199	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	GDF9_ENST00000296875.2_Missense_Mutation_p.D445N			O60383	GDF9_HUMAN	growth differentiation factor 9	445					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTATCATATCTTCGTACTCT	0.453000													13	60					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48581195	48581195	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:48581195G>C	ENST00000342988.3	+	5	1037	c.499G>C	c.(499-501)Gag>Cag	p.E167Q	SMAD4_ENST00000398417.2_Missense_Mutation_p.E167Q|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.E167Q|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	167					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GCATGACTTTGAGGGACAGCC	0.388000													22	51					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100087778	100087778	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:100087778G>C	ENST00000415585.2	+	11	1169	c.1147G>C	c.(1147-1149)Gag>Cag	p.E383Q	CSTF2_ENST00000372972.2_Missense_Mutation_p.E363Q			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	363	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CCCTGGCCATGAGAGCCGAGG	0.527000													4	15					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39249828	39249828	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:39249828C>T	ENST00000426016.1	-	11	1827	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	SOS1_ENST00000395038.2_Missense_Mutation_p.D581N|SOS1_ENST00000402219.2_Missense_Mutation_p.D581N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	581					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCTTCAGAGTCAGGCTCTGCA	0.408000									Noonan syndrome				11	101					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29600054	29600054	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:29600054G>C	ENST00000431530.3	+	1	1307	c.1249G>C	c.(1249-1251)Gat>Cat	p.D417H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	407						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.D417Y(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGGAGGGGCTGATAATCAGCC	0.522000													15	24					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58437633	58437633	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58437633C>G	ENST00000396147.1	-	4	2207	c.1916G>C	c.(1915-1917)aGa>aCa	p.R639T	ZNF418_ENST00000595830.1_Missense_Mutation_p.R639T|ZNF418_ENST00000599852.1_Missense_Mutation_p.R554T|ZNF418_ENST00000425570.3_Missense_Mutation_p.R660T|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGTGTGTACTCTCCTGTGTTC	0.433000													21	50					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561532	145561532	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:145561532C>G	ENST00000355594.4	+	10	1307	c.1220C>G	c.(1219-1221)tCa>tGa	p.S407*		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	407										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCTGAGGACTCAGCCCCAGGA	0.542000													8	70					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69088776	69088776	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:69088776C>G	ENST00000543976.1	-	6	2008	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.E585Q|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	585					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTTTCATTCTCCTTGTCTTTA	0.343000													4	36					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1422829	1422829	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:1422829G>T	ENST00000381524.3	+	11	1146	c.960G>T	c.(958-960)ggG>ggT	p.G320G	CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.G320G|CSF2RA_ENST00000417535.2_Silent_p.G354G|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000381529.3_Silent_p.G320G|CSF2RA_ENST00000432318.2_Silent_p.G320G|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000501036.2_Silent_p.G187G|CSF2RA_ENST00000361536.3_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	320						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGACGACGGGAACCTCGGCT	0.493000													16	455					2.48551e-13	2.77242e-13	1	1	0
NTN4	59277	broad.mit.edu	37	12	96107014	96107014	+	Missense_Mutation	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:96107014T>G	ENST00000343702.4	-	4	1415	c.967A>C	c.(967-969)Acg>Ccg	p.T323P	NTN4_ENST00000553059.1_Missense_Mutation_p.T323P|NTN4_ENST00000344911.4_Missense_Mutation_p.T286P|NTN4_ENST00000538383.1_Missense_Mutation_p.T286P	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	323	Laminin EGF-like 1.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GGAGCCCCCGTTTTGCCATCA	0.517000													4	62					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74355058	74355058	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:74355058C>A	ENST00000377044.4	-	5	1664	c.1125G>T	c.(1123-1125)ggG>ggT	p.G375G	TMEM2_ENST00000377066.5_Silent_p.G375G	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	375						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAGAGCCTTCCCGCCACTGC	0.433000													13	51					0.00010058	0.000105684	1	1	0
TTC30A	92104	broad.mit.edu	37	2	178482879	178482879	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:178482879G>A	ENST00000355689.5	-	1	815	c.551C>T	c.(550-552)tCg>tTg	p.S184L	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CTGGTAGCCCGAGGCCTGCAG	0.527000													4	82					0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21469712	21469712	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:21469712C>T	ENST00000222584.3	+	3	1147	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	310					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACCACTACTTCTGCCAGTACT	0.522000													41	64					0	0	1	0	0
GFI1	2672	broad.mit.edu	37	1	92946170	92946170	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:92946170G>A	ENST00000370332.1	-	4	1092	c.774C>T	c.(772-774)atC>atT	p.I258I	GFI1_ENST00000294702.5_Silent_p.I258I|GFI1_ENST00000427103.1_Silent_p.I258I	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	258					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGCTGCACTTGATGCACTTGT	0.721000													4	6					0	0	1	0	0
PLP1	5354	broad.mit.edu	37	X	103042841	103042841	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:103042841C>A	ENST00000418604.1	+	5	848	c.568C>A	c.(568-570)Ccc>Acc	p.P190T	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000361621.2_Missense_Mutation_p.P155T|PLP1_ENST00000303958.2_Missense_Mutation_p.P190T	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	190					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TATTGCCTTCCCCAGCAAGAC	0.537000													6	59					0.00116845	0.00120541	1	1	0
CDCA5	113130	broad.mit.edu	37	11	64851144	64851144	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:64851144G>A	ENST00000275517.3	-	2	270	c.98C>T	c.(97-99)tCa>tTa	p.S33L	CDCA5_ENST00000404147.3_Missense_Mutation_p.S33L	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	33					cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TTCAGAGCCTGATTTCCGCTG	0.547000													9	41					0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41667978	41667978	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:41667978G>C	ENST00000260359.6	+	9	1294	c.1030G>C	c.(1030-1032)Gat>Cat	p.D344H	NUSAP1_ENST00000414849.2_Missense_Mutation_p.D358H|NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000560747.1_Missense_Mutation_p.D357H|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000560177.1_Missense_Mutation_p.D358H|NUSAP1_ENST00000450318.1_Intron|NUSAP1_ENST00000559596.1_Missense_Mutation_p.D359H	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	359	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		ACCAGTGTTTGATCTTAAAGC	0.418000													6	60					0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7689193	7689193	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7689193C>A	ENST00000358368.4	-	7	998	c.961G>T	c.(961-963)Gag>Tag	p.E321*	XAB2_ENST00000534844.1_Nonsense_Mutation_p.E318*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	321					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCACCCTCCTCCTCGCGCCCC	0.652000								Direct reversal of damage;Nucleotide excision repair (NER)					10	131					2.27111e-07	2.46478e-07	1	1	0
HDLBP	3069	broad.mit.edu	37	2	242203869	242203869	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:242203869G>C	ENST00000391975.1	-	4	455	c.228C>G	c.(226-228)atC>atG	p.I76M	HDLBP_ENST00000427183.2_Missense_Mutation_p.I112M|HDLBP_ENST00000310931.4_Missense_Mutation_p.I76M|HDLBP_ENST00000391976.2_Missense_Mutation_p.I76M	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	76					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTACCTGAGTGATGACAGAAG	0.393000													39	86					0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125832652	125832652	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:125832652G>C	ENST00000373647.4	+	15	2066	c.1932G>C	c.(1930-1932)gaG>gaC	p.E644D	RABGAP1_ENST00000493854.1_3'UTR|RABGAP1_ENST00000373643.5_5'UTR	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	644	Rab-GAP TBC.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATGATGAAGAGATTGGTTATT	0.443000													19	87					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40613806	40613806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:40613806G>A	ENST00000589109.1	-	2	301	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	RIT2_ENST00000590910.1_Nonsense_Mutation_p.Q44*|RIT2_ENST00000282028.4_Nonsense_Mutation_p.Q44*|RIT2_ENST00000326695.5_Nonsense_Mutation_p.Q44*	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	44					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGGGAACTGATGACTAATA	0.323000													4	23					0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88945722	88945722	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:88945722C>G	ENST00000268679.4	-	11	2014	c.1618G>C	c.(1618-1620)Gag>Cag	p.E540Q	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.E502Q|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.E454Q|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.E454Q|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.E464Q	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	540					cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		AGGGCGTCCTCGGAGGCCTGC	0.701000			T	RUNX1	AML								4	54					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	605261	605261	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:605261C>T	ENST00000264555.5	+	11	1423	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	PHRF1_ENST00000416188.2_Missense_Mutation_p.S432F|PHRF1_ENST00000413872.2_Missense_Mutation_p.S431F|PHRF1_ENST00000533464.1_Missense_Mutation_p.S428F	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	432							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTCTCTGTCTCTGTTTGGA	0.602000													22	81					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439856	42439856	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:42439856C>T	ENST00000397272.3	-	12	1261	c.1170G>A	c.(1168-1170)gtG>gtA	p.V390V	PLA2G4F_ENST00000382396.4_Silent_p.V388V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	388	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCAGGTAGGTCACAGTGTCTA	0.602000													14	112					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99568524	99568524	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:99568524C>T	ENST00000331335.5	-	5	2466	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.E666K|FILIP1L_ENST00000383694.2_Missense_Mutation_p.E426K|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.E242K|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E426K|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	666						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGTCTCGTTCATTAGCATAC	0.378000													8	77					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580724	40580724	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:40580724G>C	ENST00000450241.2	-	6	1834	c.1523C>G	c.(1522-1524)tCa>tGa	p.S508*	ZNF780A_ENST00000594395.1_Nonsense_Mutation_p.S543*|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Nonsense_Mutation_p.S542*|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Nonsense_Mutation_p.S543*|ZNF780A_ENST00000340963.5_Nonsense_Mutation_p.S542*			O75290	Z780A_HUMAN	zinc finger protein 780A	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATTAAGATTTGAACCACGACG	0.373000													6	188					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6436998	6436998	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:6436998G>T	ENST00000449001.2	+	14	2647	c.2153G>T	c.(2152-2154)aGg>aTg	p.R718M	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R750M|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.R280M|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R750M	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	750	Poly-Glu.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GCCAGCCAAAGGATTGAGGGG	0.657000													10	28					1.58986e-06	1.7112e-06	1	1	0
RIPK2	8767	broad.mit.edu	37	8	90802607	90802607	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:90802607C>T	ENST00000220751.4	+	11	1900	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	RIPK2_ENST00000540020.1_Missense_Mutation_p.S392L	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	529					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GTTTCTAGATCACCATCTTTA	0.313000													4	35					0	0	1	0	0
PSIP1	11168	broad.mit.edu	37	9	15468641	15468641	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:15468641C>G	ENST00000380733.4	-	14	1750	c.1407G>C	c.(1405-1407)gaG>gaC	p.E469D	PSIP1_ENST00000380738.4_Missense_Mutation_p.E469D			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	469					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		TTTGTTCCTTCTCTAGCTTTT	0.383000													5	155					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088336	9088336	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9088336G>C	ENST00000397910.4	-	1	3682	c.3479C>G	c.(3478-3480)tCt>tGt	p.S1160C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1160	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGTAGGAGAAGAAGGAGA	0.493000													5	117					0	0	1	0	0
KCNK16	83795	broad.mit.edu	37	6	39290211	39290211	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:39290211C>G	ENST00000425054.2	-	1	105	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	KCNK16_ENST00000507712.1_5'UTR|KCNK16_ENST00000373227.4_Missense_Mutation_p.E36Q|KCNK16_ENST00000437525.2_Missense_Mutation_p.E36Q|KCNK16_ENST00000373229.5_Missense_Mutation_p.E36Q	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	36						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						GCCTGCCTCTCTAGCAGCTGG	0.627000													9	29					0	0	1	0	0
FAM131A	131408	broad.mit.edu	37	3	184059942	184059942	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:184059942G>C	ENST00000310585.4	+	1	1685	c.321G>C	c.(319-321)tgG>tgC	p.W107C	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Missense_Mutation_p.W15C|FAM131A_ENST00000450976.1_Missense_Mutation_p.W53C|FAM131A_ENST00000383847.2_Missense_Mutation_p.W138C|FAM131A_ENST00000453072.1_Missense_Mutation_p.W53C|FAM131A_ENST00000340957.5_Missense_Mutation_p.W53C			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	107						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAGGGCTGGAGCAAGCCGA	0.592000													12	129					0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50386153	50386153	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:50386153G>C	ENST00000434422.1	-	15	1754	c.1453C>G	c.(1453-1455)Cag>Gag	p.Q485E	RACGAP1_ENST00000427314.2_Missense_Mutation_p.Q485E|RACGAP1_ENST00000312377.5_Missense_Mutation_p.Q485E|RACGAP1_ENST00000551016.1_Missense_Mutation_p.Q485E|RACGAP1_ENST00000454520.2_Missense_Mutation_p.Q485E|RACGAP1_ENST00000547905.1_Missense_Mutation_p.Q485E			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	485	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGTGGACTCTGAGCCACTCTA	0.393000													15	60					0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151451905	151451905	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:151451905G>T	ENST00000356517.3	+	1	191	c.82G>T	c.(82-84)Gaa>Taa	p.E28*		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	28						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGACAACATTGAAGAAAGCTG	0.388000													3	36					6.4e-05	6.74254e-05	1	1	0
TRIM56	81844	broad.mit.edu	37	7	100732690	100732690	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:100732690C>T	ENST00000306085.6	+	3	2394	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	699					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCGAGAAGTCAACAAGGTGG	0.597000													5	105					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648609	24648609	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:24648609C>T	ENST00000311457.3	+	17	1855	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	REC8_ENST00000559919.1_Missense_Mutation_p.S419F			O95072	REC8_HUMAN	REC8 meiotic recombination protein	420	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)		ACAGAGATCTCCCTAGAGGCA	0.627000													8	169					0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51128754	51128754	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:51128754C>T	ENST00000338916.4	-	6	2103	c.1470G>A	c.(1468-1470)aaG>aaA	p.K490K	SYT3_ENST00000600079.1_Silent_p.K490K|SYT3_ENST00000544769.1_Silent_p.K490K|SYT3_ENST00000593901.1_Silent_p.K490K	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	490	C2 2.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCGTGTTCTTCTTGATGGAGG	0.582000													4	13					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814756	174814756	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:174814756C>T	ENST00000454872.1	+	2	348	c.220C>T	c.(220-222)Cta>Tta	p.L74L	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	74					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAATCAGAACCTAGGGCATTC	0.463000													7	32					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31076014	31076014	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:31076014G>C	ENST00000318217.5	-	12	1782	c.1478C>G	c.(1477-1479)tCa>tGa	p.S493*	MYO1D_ENST00000394649.4_Nonsense_Mutation_p.S405*|MYO1D_ENST00000579584.1_Nonsense_Mutation_p.S493*|MYO1D_ENST00000584232.1_5'UTR	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	493	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AATTTTGTCTGAGGCACAGAG	0.348000													9	88					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116425022	116425022	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:116425022C>G	ENST00000281928.3	-	18	4212	c.4006G>C	c.(4006-4008)Gat>Cat	p.D1336H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1336					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGGATGGCATCTTGGAGAAAG	0.542000													5	46					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8606846	8606846	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:8606846C>G	ENST00000338257.8	-	15	1821	c.1554G>C	c.(1552-1554)gaG>gaC	p.E518D		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	518	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CTCGGTTCCTCTCGCAGAAGC	0.612000													6	75					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136501793	136501793	+	Silent	SNP	C	C	G	rs143504054		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:136501793C>G	ENST00000393056.2	+	1	312	c.300C>G	c.(298-300)ctC>ctG	p.L100L		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	100	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	ACGCAGATCTCGTGGTGCTCT	0.622000													8	39					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982436	58982436	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58982436G>C	ENST00000536459.2	+	4	1286	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	ZNF324_ENST00000196482.3_Missense_Mutation_p.E193Q|ZNF324_ENST00000535298.1_5'UTR			O75467	Z324A_HUMAN	zinc finger protein 324	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CAGGACGCCTGAGCGGCAGAA	0.657000													5	78					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37822005	37822005	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37822005G>A	ENST00000309889.2	+	2	1320	c.147G>A	c.(145-147)gaG>gaA	p.E49E	TCAP_ENST00000578283.1_Silent_p.E49E			O15273	TELT_HUMAN	titin-cap	49					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGAGACATGAGACCTACCACC	0.667000													18	16					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167823684	167823684	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:167823684C>G	ENST00000367848.1	-	18	2436	c.1939G>C	c.(1939-1941)Gaa>Caa	p.E647Q	ADCY10_ENST00000545172.1_Missense_Mutation_p.E586Q|ADCY10_ENST00000367851.4_Missense_Mutation_p.E739Q			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	739					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTAAGCAATTCTTCACAGTAA	0.408000													9	146					0	0	1	0	0
RPS6	6194	broad.mit.edu	37	9	19376499	19376499	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:19376499C>G	ENST00000380394.4	-	5	705	c.647G>C	c.(646-648)aGa>aCa	p.R216T	RPS6_ENST00000380384.1_Missense_Mutation_p.R185T|RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000315377.4_Missense_Mutation_p.R185T	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	216					endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AACCTTCATTCTCTTGGCCAA	0.463000													6	78					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203644279	203644279	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:203644279C>A	ENST00000392237.2	-	14	1583	c.1426G>T	c.(1426-1428)Gat>Tat	p.D476Y	ICA1L_ENST00000358299.2_Missense_Mutation_p.D476Y	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	476										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTCATCATCTGAGTGTCCA	0.408000													9	24					3.09899e-07	3.35488e-07	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													4	112					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992991	96992991	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:96992991G>A	ENST00000361124.4	+	1	1057	c.646G>A	c.(646-648)Gag>Aag	p.E216K	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.E200K|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.E200K|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.E208K	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	208						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCCGCCAAGAGGCTCACCC	0.542000													25	127					0	0	1	0	0
TYRO3	7301	broad.mit.edu	37	15	41859720	41859720	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:41859720C>G	ENST00000263798.3	+	7	1170	c.946C>G	c.(946-948)Cag>Gag	p.Q316E	TYRO3_ENST00000559066.1_Missense_Mutation_p.Q271E	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	316	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GGTGCCCTTTCAGACCAAGGG	0.637000													6	75					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228596898	228596898	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:228596898C>G	ENST00000366697.2	-	5	1814	c.858G>C	c.(856-858)caG>caC	p.Q286H	TRIM17_ENST00000456946.2_Missense_Mutation_p.Q286H|TRIM17_ENST00000366698.2_Missense_Mutation_p.Q286H|TRIM17_ENST00000295033.3_Missense_Mutation_p.Q286H|RP11-245P10.4_ENST00000436779.1_RNA			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	286	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GCACTTCAATCTGTCCGGGAA	0.612000													8	140					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511409	169511409	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:169511409G>C	ENST00000367796.3	-	13	3135	c.2934C>G	c.(2932-2934)atC>atG	p.I978M	F5_ENST00000367797.3_Missense_Mutation_p.I973M			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	973	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGGGGCTGATCAGCCAAT	0.468000													13	225					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65954275	65954275	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:65954275G>C	ENST00000443035.3	-	33	5850	c.5635C>G	c.(5635-5637)Caa>Gaa	p.Q1879E	DENND4A_ENST00000431932.2_Missense_Mutation_p.Q1836E	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTCTTGACTTGACTAGGTGTG	0.363000													3	14					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63053373	63053373	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:63053373C>G	ENST00000263991.5	+	6	946	c.464C>G	c.(463-465)tCt>tGt	p.S155C	EHBP1_ENST00000354487.3_Missense_Mutation_p.S155C|EHBP1_ENST00000431489.1_Missense_Mutation_p.S155C|EHBP1_ENST00000405289.1_Missense_Mutation_p.S155C|EHBP1_ENST00000405015.3_Missense_Mutation_p.S155C|AC007098.1_ENST00000452397.1_RNA	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	155						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTTTCATTATCTTGCATTTTT	0.368000													13	69					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29365932	29365932	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:29365932G>C	ENST00000343067.4	+	11	1757	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	EPB41_ENST00000349460.4_Missense_Mutation_p.D335H|EPB41_ENST00000373798.1_Missense_Mutation_p.D544H|EPB41_ENST00000373797.1_Missense_Mutation_p.D544H|EPB41_ENST00000373800.3_Missense_Mutation_p.D335H|EPB41_ENST00000398863.2_Missense_Mutation_p.D544H|EPB41_ENST00000356093.2_Missense_Mutation_p.D544H|EPB41_ENST00000347529.3_Missense_Mutation_p.D509H	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	544	Hydrophilic.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CCGGAGCCTCGATGGAGGTTT	0.443000													5	70					0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	916765	916765	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:916765G>A	ENST00000382276.3	+	4	974	c.825G>A	c.(823-825)atG>atA	p.M275I	DMRT1_ENST00000569227.1_Missense_Mutation_p.M117I	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	275					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TTAAGCAGATGAAGAACATGG	0.438000													11	67					0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38522445	38522445	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:38522445G>C	ENST00000332509.3	-	10	1543	c.1360C>G	c.(1360-1362)Ctc>Gtc	p.L454V	PLA2G6_ENST00000490473.1_5'UTR|PLA2G6_ENST00000335539.3_Missense_Mutation_p.L400V|PLA2G6_ENST00000402064.1_Missense_Mutation_p.L400V	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	454					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ATGTGCATGAGATCCTGTAGT	0.617000													3	54					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33614803	33614803	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:33614803G>A	ENST00000399362.4	-	26	2875	c.2522C>T	c.(2521-2523)tCa>tTa	p.S841L	CLASP2_ENST00000468888.2_Missense_Mutation_p.S842L|CLASP2_ENST00000359576.5_Missense_Mutation_p.S833L|CLASP2_ENST00000480013.1_Missense_Mutation_p.S621L|CLASP2_ENST00000307312.7_Missense_Mutation_p.S322L|CLASP2_ENST00000539981.1_Missense_Mutation_p.S611L|CLASP2_ENST00000461133.3_Missense_Mutation_p.S600L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	842										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GTCATCATCTGAATGCATTCC	0.378000													10	80					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407043	9407043	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9407043G>T	ENST00000591998.1	-	6	1265	c.1037C>A	c.(1036-1038)tCt>tAt	p.S346Y	ZNF699_ENST00000308650.3_Missense_Mutation_p.S346Y			Q32M78	ZN699_HUMAN	zinc finger protein 699	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGAGAGGAAGAGCTAAAGGC	0.433000													5	50					0.000602214	0.000624971	1	1	0
STIL	6491	broad.mit.edu	37	1	47746239	47746239	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:47746239C>G	ENST00000360380.3	-	13	2254	c.1891G>C	c.(1891-1893)Gat>Cat	p.D631H	STIL_ENST00000396221.2_Missense_Mutation_p.D631H|STIL_ENST00000337817.5_Missense_Mutation_p.D631H|STIL_ENST00000371877.3_Missense_Mutation_p.D631H|STIL_ENST00000243182.6_Missense_Mutation_p.D631H	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	631	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GACTGGACATCTTGAATGGAT	0.423000													73	271					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50473809	50473809	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:50473809G>T	ENST00000228468.4	+	8	1561	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	ASIC1_ENST00000447966.2_Missense_Mutation_p.K392N|ASIC1_ENST00000552438.1_Missense_Mutation_p.K426N	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	392					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	ACCTGGCCAAGAAGTTCAACA	0.527000													16	131					6.72482e-11	7.41863e-11	1	1	0
HIST1H2AK	8330	broad.mit.edu	37	6	27806021	27806021	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:27806021G>A	ENST00000330180.2	-	1	96	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	33					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CGGAGCAGTCGGTGCACTCGG	0.652000													17	30					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069320	205069320	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:205069320C>G	ENST00000264515.6	-	7	853	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	RBBP5_ENST00000367164.1_Missense_Mutation_p.E238Q	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	238					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GGTTCAGGCTCTCCATCTCTT	0.388000													4	46					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298564	62298564	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62298564C>T	ENST00000378024.4	-	5	3599	c.3325G>A	c.(3325-3327)Gat>Aat	p.D1109N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1109					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTTTAATATCTACCTTGGGA	0.468000													37	95					0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149755049	149755049	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:149755049G>C	ENST00000451292.1	+	11	1744	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	TCOF1_ENST00000323668.7_Missense_Mutation_p.E469Q|TCOF1_ENST00000394269.3_Missense_Mutation_p.E546Q|TCOF1_ENST00000513346.1_Missense_Mutation_p.E546Q|TCOF1_ENST00000377797.3_Missense_Mutation_p.E546Q|TCOF1_ENST00000445265.2_Missense_Mutation_p.E469Q|TCOF1_ENST00000439160.2_Missense_Mutation_p.E546Q|TCOF1_ENST00000504761.2_Missense_Mutation_p.E546Q			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	546					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGACTCAGAGAGCAGTAG	0.647000													6	64					0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69222685	69222685	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:69222685G>A	ENST00000462284.1	+	8	960	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	MDM2_ENST00000360430.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.E189K|MDM2_ENST00000258149.5_Missense_Mutation_p.E159K|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.E165K|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	214	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			CAGTAGCAGTGAATCTACAGG	0.413000			A		"""sarcoma, glioma, colorectal, other"""								7	128					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369306	37369306	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:37369306G>C	ENST00000361924.2	+	14	6303	c.5929G>C	c.(5929-5931)Gag>Cag	p.E1977Q	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1999Q|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1977	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAAAGGGAAGAGAAAATCAA	0.308000													9	46					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32932092	32932092	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:32932092C>G	ENST00000383763.5	+	4	1459	c.1396C>G	c.(1396-1398)Cag>Gag	p.Q466E		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACCCCCCGATCAGGCACTGTA	0.632000													11	106					0	0	1	0	0
FAM114A2	10827	broad.mit.edu	37	5	153381828	153381828	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:153381828C>G	ENST00000351797.4	-	11	1315	c.1239G>C	c.(1237-1239)agG>agC	p.R413S	FAM114A2_ENST00000520667.1_Missense_Mutation_p.R413S|FAM114A2_ENST00000520313.1_Missense_Mutation_p.R343S|FAM114A2_ENST00000522858.1_Missense_Mutation_p.R413S	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	413							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GAGTTTGGCTCCTTTCTATGG	0.443000													10	63					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													7	144					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67450437	67450437	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:67450437G>C	ENST00000357692.2	+	15	1701	c.1444G>C	c.(1444-1446)Gaa>Caa	p.E482Q	MIER1_ENST00000401042.3_Intron|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371018.3_Intron|MIER1_ENST00000401041.1_Missense_Mutation_p.E518Q|MIER1_ENST00000355356.3_Missense_Mutation_p.E465Q	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	489					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TGCAAGAAATGAAAATGATTT	0.378000													19	46					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27958625	27958625	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:27958625G>A	ENST00000269033.3	-	15	3657	c.3506C>T	c.(3505-3507)tCc>tTc	p.S1169F	SSH2_ENST00000540801.1_Missense_Mutation_p.S1196F|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1169					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTGCCACTGGAGAGAGGGCT	0.507000													9	58					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													4	22					0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123171459	123171459	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:123171459C>G	ENST00000349780.4	-	30	4729	c.4550G>C	c.(4549-4551)aGa>aCa	p.R1517T	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1485T|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1517T|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1476T	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1517					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTGGTTGTGTCTCTCCTTCTC	0.602000													5	59					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122985352	122985352	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:122985352G>C	ENST00000336229.4	-	1	166	c.36C>G	c.(34-36)ctC>ctG	p.L12L		NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	12						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ACGGCTCGAAGAGCTCTAGAT	0.592000													4	4					0	0	1	0	0
TNFRSF6B	8771	broad.mit.edu	37	20	62329731	62329731	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:62329731G>A	ENST00000369996.1	+	3	818	c.718G>A	c.(718-720)Gag>Aag	p.E240K	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	240					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGAGGCCCCGGAGGGCTGGGG	0.697000													5	40					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369911	109369911	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:109369911C>G	ENST00000370001.3	-	11	2120	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	AKNAD1_ENST00000369994.1_Missense_Mutation_p.E588Q|AKNAD1_ENST00000357393.4_Missense_Mutation_p.E325Q|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E618Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	618										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						CCCTTTTTCTCCACGTTTTGC	0.383000													41	81					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185544	41185544	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:41185544G>C	ENST00000564680.1	-	0	141																											ATTGTGTAATGAGACTTCTGA	0.493000													12	41					0	0	1	0	0
DCAF16	54876	broad.mit.edu	37	4	17805489	17805489	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:17805489C>G	ENST00000382247.1	-	3	1336	c.276G>C	c.(274-276)gaG>gaC	p.E92D	DCAF16_ENST00000536863.1_Missense_Mutation_p.E92D	NM_017741.3	NP_060211.3	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	92						CUL4 RING ubiquitin ligase complex				cervix(1)|endometrium(1)|lung(2)|ovary(1)	5						TTAGACCTATCTCTCGAAGTA	0.433000													12	154					0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36060127	36060127	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:36060127G>T	ENST00000377966.3	+	4	812	c.246G>T	c.(244-246)tgG>tgT	p.W82C	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	82	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTGAAATTTGGAATTGTATGA	0.289000													4	34					0.150653	0.15135	1	1	0
ACTL7A	10881	broad.mit.edu	37	9	111624743	111624743	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:111624743G>A	ENST00000333999.3	+	1	141	c.141G>A	c.(139-141)acG>acA	p.T47T		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	47	Required for interaction with TES.					cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCCGCCATACGAGTTCAGAGC	0.617000													14	61					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96030322	96030322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:96030322C>A	ENST00000371380.3	+	17	4704	c.4469C>A	c.(4468-4470)tCa>tAa	p.S1490*	PLCE1_ENST00000260766.3_Nonsense_Mutation_p.S1490*|PLCE1_ENST00000371375.1_Nonsense_Mutation_p.S1182*|PLCE1_ENST00000371385.3_Nonsense_Mutation_p.S1182*			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		PI-PLC X-box.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AACCACTGTTCATTGCCTCAG	0.443000													28	48					1.32003e-05	1.40341e-05	1	1	0
FLG	2312	broad.mit.edu	37	1	152277812	152277812	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152277812C>T	ENST00000368799.1	-	3	9585	c.9550G>A	c.(9550-9552)Gaa>Aaa	p.E3184K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3184	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGAAGCTTCATGGTGACGT	0.562000									Ichthyosis				43	532					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3765427	3765427	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:3765427C>T	ENST00000379751.4	-	1	1910	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	568					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GGATGTGGCTCTGCACGCGGT	0.557000													4	69					0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75941771	75941771	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:75941771G>C	ENST00000308527.5	+	1	1525	c.328G>C	c.(328-330)Gag>Cag	p.E110Q		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	110					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GGGTAGCTTTGAGGAGGATGA	0.632000													10	66					0	0	1	0	0
NR2C2	7182	broad.mit.edu	37	3	15046080	15046080	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:15046080C>G	ENST00000323373.6	+	3	306	c.89C>G	c.(88-90)tCt>tGt	p.S30C	NR2C2_ENST00000393102.3_Intron|NR2C2_ENST00000406272.2_Intron|NR2C2_ENST00000425241.1_Intron	NM_003298.3	NP_003289.2	P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	24					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						gaacctgcctctggcccattg	0.348000													4	16					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	137017185	137017185	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:137017185G>C	ENST00000359015.4	-	6	1346	c.986C>G	c.(985-987)tCt>tGt	p.S329C		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	329					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCACAATAGAATCATAGTC	0.353000													6	25					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116632046	116632046	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:116632046C>G	ENST00000395715.3	-	3	856	c.279G>C	c.(277-279)ctG>ctC	p.L93L	TRPS1_ENST00000520276.1_Silent_p.L84L|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Silent_p.L80L|TRPS1_ENST00000220888.5_Silent_p.L80L	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	80					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCTTCTCACTCAGAACTGCGC	0.438000									Langer-Giedion syndrome				4	63					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129475818	129475818	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:129475818G>C	ENST00000421865.2	+	8	1245	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	399	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGCTTCTTCAGACCCAAAGGG	0.328000													6	33					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746779	47746779	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:47746779C>T	ENST00000360380.3	-	13	1714	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	STIL_ENST00000396221.2_Missense_Mutation_p.E451K|STIL_ENST00000337817.5_Missense_Mutation_p.E451K|STIL_ENST00000371877.3_Missense_Mutation_p.E451K|STIL_ENST00000243182.6_Missense_Mutation_p.E451K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	451					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GGAGGATTTTCATTATTCACC	0.418000													45	180					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189907983	189907983	+	Splice_Site	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:189907983C>T	ENST00000374866.3	-	48	3639	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1122					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCTTGGGGTCCCTAGAAATA	0.398000													8	13					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159036113	159036113	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:159036113G>C	ENST00000368130.4	-	4	691	c.403C>G	c.(403-405)Cag>Gag	p.Q135E	AIM2_ENST00000411768.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	135					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					ATCTGTTTCTGTTCAGGCTGA	0.443000													16	107					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35700302	35700302	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:35700302G>A	ENST00000314888.9	-	49	6899	c.6546C>T	c.(6544-6546)atC>atT	p.I2182I	TLN1_ENST00000540444.1_Silent_p.I2070I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2182					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.I2182M(1)|p.I2182I(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCCATGGTGATACCCTTGG	0.537000													9	110					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78444775	78444775	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:78444775G>A	ENST00000306773.4	-	5	1294	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	379	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCCAGATGTTGAAGTGGGCCA	0.602000													16	116					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703682	40703682	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:40703682C>G	ENST00000372771.4	+	8	3335	c.3308C>G	c.(3307-3309)tCa>tGa	p.S1103*		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1103					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCATCTATCTCAGACCTTAAT	0.418000													41	168					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50853909	50853909	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:50853909G>A	ENST00000313478.7	-	39	5845	c.5564C>T	c.(5563-5565)tCa>tTa	p.S1855L	TRPM7_ENST00000561443.1_5'UTR|TRPM7_ENST00000560955.1_Missense_Mutation_p.S1854L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1855					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		AGTTGATTCTGATTCTTTGGT	0.358000													4	35					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102939934	102939934	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:102939934G>A	ENST00000249269.4	+	3	323	c.285G>A	c.(283-285)aaG>aaA	p.K95K	PMPCB_ENST00000420236.2_5'UTR|PMPCB_ENST00000428154.1_Silent_p.K95K	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	95					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAAATGAGAAGAACAATGGAA	0.348000													12	42					0	0	1	0	0
PACSIN2	11252	broad.mit.edu	37	22	43267465	43267465	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:43267465C>G	ENST00000263246.3	-	11	1560	c.1359G>C	c.(1357-1359)ctG>ctC	p.L453L	PACSIN2_ENST00000403744.3_Silent_p.L453L|PACSIN2_ENST00000337959.4_Silent_p.L412L|PACSIN2_ENST00000402229.1_Silent_p.L453L|PACSIN2_ENST00000407585.1_Silent_p.L412L	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	453	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CCATCTTGGTCAGCTCATCCC	0.577000													5	66					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64375395	64375395	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:64375395G>A	ENST00000265459.6	-	23	4873	c.4412C>T	c.(4411-4413)cCg>cTg	p.P1471L	NRXN2_ENST00000377559.3_Missense_Mutation_p.P1401L|NRXN2_ENST00000377551.1_Missense_Mutation_p.P1471L|NRXN2_ENST00000301894.2_Missense_Mutation_p.P425L|NRXN2_ENST00000409571.1_Missense_Mutation_p.P1464L	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1471					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCAGAgggcgggcggcgcgc	0.746000													7	2					0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57778405	57778405	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:57778405G>C	ENST00000379661.3	+	4	663	c.271G>C	c.(271-273)Gac>Cac	p.D91H		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	91	Interaction with centrosomes.|Interaction with dynein (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCGTGTCTGGGACCTGGAAGC	0.627000													5	67					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830166	49830166	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:49830166G>A	ENST00000527477.1	+	0	1497																											TGGACTGAGGGACAGGCTCAT	0.478000													6	19					0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178936649	178936649	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:178936649G>T	ENST00000286063.6	-	1	833	c.516C>A	c.(514-516)ctC>ctA	p.L172L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCAGCGCACTGAGAATATGGG	0.562000									Primary Pigmented Nodular Adrenocortical Disease, Familial				14	74					0.000151284	0.000158897	1	1	0
MICAL3	57553	broad.mit.edu	37	22	18368659	18368659	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:18368659G>A	ENST00000441493.2	-	16	2578	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	MICAL3_ENST00000414725.2_Silent_p.I742I|MICAL3_ENST00000383094.3_Silent_p.I742I|MICAL3_ENST00000400561.2_Silent_p.I742I|MICAL3_ENST00000429452.1_Silent_p.I742I|MICAL3_ENST00000444520.1_Silent_p.I742I|MICAL3_ENST00000585038.1_Silent_p.I742I|MICAL3_ENST00000207726.7_Silent_p.I742I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	742						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCGTATGCCGATGGACTGTG	0.547000													7	151					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081239	152081239	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152081239C>A	ENST00000368804.1	-	2	4453	c.4454G>T	c.(4453-4455)aGa>aTa	p.R1485I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1485	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGAATTTTCTGTCACGCTC	0.552000													14	209					3.27435e-08	3.56693e-08	1	1	0
PAQR6	79957	broad.mit.edu	37	1	156213682	156213682	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156213682C>G	ENST00000335852.1	-	7	1641	c.1026G>C	c.(1024-1026)ctG>ctC	p.L342L	PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000292291.5_3'UTR|PAQR6_ENST00000356983.2_Silent_p.L342L|PAQR6_ENST00000492619.1_5'UTR	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	0						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					TCTCCCCTCTCAGACCCTCAG	0.587000													43	627					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110719698	110719698	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:110719698G>C	ENST00000395494.2	+	1	667	c.104G>C	c.(103-105)aGa>aCa	p.R35T	ATP2A2_ENST00000308664.6_Missense_Mutation_p.R35T|ATP2A2_ENST00000552636.1_Intron|ATP2A2_ENST00000539276.2_Missense_Mutation_p.R35T			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	35					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTAAGGAGAGATGGGGCTCC	0.667000													3	16					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91852209	91852209	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:91852209C>G	ENST00000394507.1	-	14	2121	c.1338G>C	c.(1336-1338)caG>caC	p.Q446H	KRIT1_ENST00000412043.2_Missense_Mutation_p.Q446H|KRIT1_ENST00000394503.2_Missense_Mutation_p.Q398H|KRIT1_ENST00000340022.2_Missense_Mutation_p.Q446H|KRIT1_ENST00000394505.2_Missense_Mutation_p.Q446H	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	446	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCCATTATCTGCTGCACTG	0.338000													6	38					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54304579	54304579	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:54304579C>G	ENST00000324134.6	-	7	2826	c.2658G>C	c.(2656-2658)ctG>ctC	p.L886L	NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000535162.1_Silent_p.L886L|NLRP12_ENST00000391775.3_Silent_p.L886L|NLRP12_ENST00000345770.5_Silent_p.L887L|NLRP12_ENST00000351894.4_Intron|NLRP12_ENST00000391773.1_Silent_p.L887L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	886					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCAGCTCTCTCAGGCTCTGGT	0.597000													15	39					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848601	79848601	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:79848601G>A	ENST00000331204.4	-	2	359	c.333C>T	c.(331-333)tcC>tcT	p.S111S	ALYREF_ENST00000505490.2_Silent_p.S118S|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	111	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										AATCCAGATTGGACACCAGCA	0.562000													16	127					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39897562	39897562	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:39897562C>T	ENST00000597629.1	+	1	110	c.36C>T	c.(34-36)atC>atT	p.I12I	ZFP36_ENST00000594045.1_Silent_p.I12I|ZFP36_ENST00000248673.3_Silent_p.I6I			P26651	TTP_HUMAN	ZFP36 ring finger protein	6					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGACTGCCATCTACGAGGTGA	0.657000													11	55					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211525	17211525	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:17211525C>T	ENST00000261381.6	-	11	2619	c.2535G>A	c.(2533-2535)tcG>tcA	p.S845S		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	845					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGCCTGTTCGAGAAGGTCA	0.547000													8	41					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50006029	50006029	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:50006029C>G	ENST00000443081.1	+	3	1694	c.775C>G	c.(775-777)Ctg>Gtg	p.L259V	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.L391V|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	391					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAAGGCGGTCTGGACTTTCT	0.498000													17	58					0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170028280	170028280	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:170028280G>A	ENST00000284637.9	-	11	2557	c.2216C>T	c.(2215-2217)tCg>tTg	p.S739L		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	739						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TAGGGTGGGCGATGCTGGAGG	0.572000													17	21					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119004	161119004	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:161119004C>G	ENST00000523217.1	+	8	1096	c.854C>G	c.(853-855)cCa>cGa	p.P285R	GABRA6_ENST00000274545.5_Missense_Mutation_p.P295R	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	295					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACTCTTTGCCAAAAGTGTCA	0.418000										TCGA Ovarian(5;0.080)			4	80					0	0	1	0	0
KPNA4	3840	broad.mit.edu	37	3	160253346	160253346	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:160253346G>C	ENST00000334256.4	-	5	547	c.242C>G	c.(241-243)tCa>tGa	p.S81*		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	81					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			GTTATCACTTGAAGCATTCta	0.313000													4	12					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12976944	12976944	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:12976944G>C	ENST00000358007.3	+	8	913	c.891G>C	c.(889-891)atG>atC	p.M297I	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	297	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		ATGGACAAATGAGTCAGGTAA	0.468000													23	116					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65103740	65103740	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:65103740C>T	ENST00000358691.5	-	31	4952	c.4786G>A	c.(4786-4788)Gaa>Aaa	p.E1596K	HELZ_ENST00000580168.1_Missense_Mutation_p.E1597K	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTGGCATTTCAGCTAGTTCC	0.423000													18	181					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140375451	140375451	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:140375451C>T	ENST00000305626.5	+	1	491	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	34					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					CCCGCATCTTCAAGATAATCG	0.627000													7	29					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14492921	14492921	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:14492921C>G	ENST00000344204.4	+	49	7902	c.7878C>G	c.(7876-7878)ctC>ctG	p.L2626L	TRIO_ENST00000344135.5_Silent_p.L125L|TRIO_ENST00000537187.1_Silent_p.L2450L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2626					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ACGGGACTCTCAAGTGAGTGC	0.637000													5	56					0	0	1	0	0
ANKRD32	84250	broad.mit.edu	37	5	94031006	94031006	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:94031006G>C	ENST00000265140.5	+	21	3585	c.3166G>C	c.(3166-3168)Gag>Cag	p.E1056Q	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	1056										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GTCAGTCATGGAGTTTTCATG	0.398000													9	123					0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33585896	33585896	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:33585896G>A	ENST00000299977.4	+	2	335	c.187G>A	c.(187-189)Gag>Aag	p.E63K	SLFN5_ENST00000542451.1_Missense_Mutation_p.E63K|SLFN5_ENST00000592325.1_Missense_Mutation_p.E63K	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	63					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GGCTGAGATTGAGAACAAAGG	0.453000													6	104					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1584858	1584858	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:1584858C>G	ENST00000572621.1	-	5	1045	c.780G>C	c.(778-780)ttG>ttC	p.L260F	PRPF8_ENST00000304992.6_Missense_Mutation_p.L260F			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	260						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGAAGGCCTTCAAATCAAACA	0.483000													28	230					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471578	20471578	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:20471578A>G	ENST00000573854.1	+	2	256	c.142A>G	c.(142-144)Agt>Ggt	p.S48G	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Missense_Mutation_p.S48G|ACSM2A_ENST00000396104.2_Missense_Mutation_p.S48G|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000219054.6_Missense_Mutation_p.S48G|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000575690.1_Missense_Mutation_p.S48G	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	48					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAACTTTGCTAGTGATGTGTT	0.473000													11	27					0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247150544	247150544	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:247150544G>C	ENST00000339986.7	-	4	1420	c.1273C>G	c.(1273-1275)Caa>Gaa	p.Q425E	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	425					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-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)			CTCTTATGTTGAGTAAGGTAT	0.358000													10	15					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29587424	29587424	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:29587424G>T	ENST00000358273.4	+	34	4851	c.4468G>T	c.(4468-4470)Gat>Tat	p.D1490Y	NF1_ENST00000356175.3_Missense_Mutation_p.D1469Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1490					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTACAAGTGATGCAGTAAA	0.368000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			27	103					7.92952e-12	8.78477e-12	1	1	0
CACNA1E	777	broad.mit.edu	37	1	181725220	181725220	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:181725220G>C	ENST00000526775.1	+	28	4226	c.4061G>C	c.(4060-4062)gGa>gCa	p.G1354A	CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1324A|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G980A|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1373A|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1354A|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1373A|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1305A	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1373					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACAGGGGAAGGATGGCCTCAG	0.537000													3	25					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30653002	30653002	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:30653002G>A	ENST00000274853.3	-	1	2670	c.794C>T	c.(793-795)tCa>tTa	p.S265L	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_Missense_Mutation_p.S265L	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	265						cytoplasm|cytoskeleton	actin binding										TTCTTCTCCTGACCTCAGCCT	0.522000													18	243					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081012	152081012	+	Missense_Mutation	SNP	C	C	G	rs71585886		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152081012C>G	ENST00000368804.1	-	2	4680	c.4681G>C	c.(4681-4683)Gaa>Caa	p.E1561Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1561	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCAGCTGTTCCTCCTCGCGG	0.597000													15	169					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187789	37187789	+	RNA	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37187789C>A	ENST00000425901.2	+	0	1631					NR_033753.2																						GAAGAAGATTCCTCCCAAGCA	0.488000													8	160					1.12685e-05	1.20047e-05	1	1	0
KRT3	3850	broad.mit.edu	37	12	53185159	53185159	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53185159C>A	ENST00000417996.2	-	7	1440	c.1366G>T	c.(1366-1368)Gcc>Tcc	p.A456S	KRT3_ENST00000309505.3_Missense_Mutation_p.A456S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	456	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCTTGAGGGCCATCTCTCCA	0.612000													7	92					0.00198382	0.00203771	1	1	0
HSPA12B	116835	broad.mit.edu	37	20	3730747	3730747	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:3730747G>C	ENST00000254963.2	+	11	1319	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	HSPA12B_ENST00000542646.1_Missense_Mutation_p.E226Q	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	392							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CATCGCCTTCGAGGCTCGCAA	0.627000													7	23					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195016498	195016498	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:195016498C>G	ENST00000326793.6	-	17	1841	c.1611G>C	c.(1609-1611)aaG>aaC	p.K537N		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	537					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TGCTCAGCCTCTTTTCTTCAG	0.383000													16	38					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	294905	294905	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:294905G>C	ENST00000397962.3	+	14	1991	c.1563G>C	c.(1561-1563)caG>caC	p.Q521H	ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q401H|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q520H|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q441H|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q490H|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q521H|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q427H|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q481H|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q521H|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q481H|ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q436H|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q316H|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q436H|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q504H|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q481H			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	481	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAACATGCAGGGTGAGATGG	0.413000													7	52					0	0	1	0	0
GFM1	85476	broad.mit.edu	37	3	158376764	158376764	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:158376764G>C	ENST00000486715.1	+	9	1494	c.1137G>C	c.(1135-1137)aaG>aaC	p.K379N	GFM1_ENST00000478576.1_Missense_Mutation_p.K379N|GFM1_ENST00000264263.5_Missense_Mutation_p.K398N	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	379					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAGAGCTAAAGAAGGGTGACA	0.438000													9	55					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486396	45486396	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:45486396G>C	ENST00000359600.5	-	12	2719	c.2514C>G	c.(2512-2514)ctC>ctG	p.L838L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	838							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GTTTGAAGATGAGGGAGGAAG	0.478000													26	499					0	0	1	0	0
HPS6	79803	broad.mit.edu	37	10	103826444	103826444	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:103826444G>C	ENST00000299238.5	+	1	1298	c.1213G>C	c.(1213-1215)Gag>Cag	p.E405Q		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	405						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCTGGTGTTTGAGGAGGCCTG	0.602000									Hermansky-Pudlak syndrome				26	28					0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94940805	94940805	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:94940805G>A	ENST00000222381.3	-	5	686	c.455C>T	c.(454-456)tCg>tTg	p.S152L	PON1_ENST00000542556.1_Missense_Mutation_p.S152L	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	152					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ATGCAAAAGCGATTTTTCTTC	0.378000													11	73					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64989555	64989555	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:64989555G>C	ENST00000358738.3	+	2	1724	c.1333G>C	c.(1333-1335)Gaa>Caa	p.E445Q	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Missense_Mutation_p.E445Q|ZBTB1_ENST00000554015.1_Missense_Mutation_p.E445Q	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		CAAACACATTGAAAATATCTG	0.448000													18	109					0	0	1	0	0
POMT1	10585	broad.mit.edu	37	9	134379656	134379656	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:134379656G>C	ENST00000423007.1	+	2	493	c.51G>C	c.(49-51)ttG>ttC	p.L17F	POMT1_ENST00000419118.2_Intron|POMT1_ENST00000402686.3_Missense_Mutation_p.L17F|POMT1_ENST00000372228.3_Missense_Mutation_p.L17F|POMT1_ENST00000404875.2_Intron|POMT1_ENST00000341012.7_Intron|POMT1_ENST00000354713.4_Missense_Mutation_p.L17F|POMT1_ENST00000541219.1_Intron	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	17					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		ACATCAACTTGAGCCTTGTGG	0.572000											OREG0019563	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	83					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27057811	27057811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:27057811C>T	ENST00000324856.7	+	3	1890	c.1519C>T	c.(1519-1521)Caa>Taa	p.Q507*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q124*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q507*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	507					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCACAGTCTCAACCACCACA	0.622000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								211	169					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39047754	39047754	+	Missense_Mutation	SNP	C	C	G	rs145635815		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:39047754C>G	ENST00000331366.5	-	20	1721	c.1625G>C	c.(1624-1626)cGa>cCa	p.R542P	CPNE8_ENST00000538596.2_Missense_Mutation_p.R211P|CPNE8_ENST00000360449.3_Missense_Mutation_p.R530P|CPNE8_ENST00000546603.1_5'UTR	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	542										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTTGATTCCTCGGGCTCTCAT	0.463000													6	47					0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735697	12735697	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:12735697G>C	ENST00000380682.1	+	16	3258	c.2752G>C	c.(2752-2754)Gag>Cag	p.E918Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	918					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGAAATGACTGAGAGTTCTGA	0.493000													85	141					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51693809	51693809	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:51693809C>G	ENST00000335449.6	+	9	1103	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L	GLDN_ENST00000396399.2_Missense_Mutation_p.F225L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	349	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTAAGGAATTCAAGGATCAGC	0.493000											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	69					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534055	92534055	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:92534055G>C	ENST00000298047.6	+	9	7893	c.7876G>C	c.(7876-7878)Gat>Cat	p.D2626H	FAT3_ENST00000409404.2_Missense_Mutation_p.D2626H|FAT3_ENST00000525166.1_Missense_Mutation_p.D2476H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2626	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAAGCCATAGATCCCGATGA	0.488000										TCGA Ovarian(4;0.039)			6	15					0	0	1	0	0
DNAJB1	3337	broad.mit.edu	37	19	14628993	14628993	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:14628993C>A	ENST00000254322.2	-	1	239	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	57	J.				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTGCGCGGGTCGCTGAGCACG	0.672000													4	24					0.000602214	0.000624971	1	1	0
NRG3	10718	broad.mit.edu	37	10	84745197	84745197	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:84745197G>T	ENST00000372142.2	+	11	1610	c.1336G>T	c.(1336-1338)Gat>Tat	p.D446Y	NRG3_ENST00000556918.1_Missense_Mutation_p.D473Y|NRG3_ENST00000537893.1_Missense_Mutation_p.D293Y|NRG3_ENST00000545131.1_Missense_Mutation_p.D293Y|NRG3_ENST00000372141.2_Missense_Mutation_p.D643Y|NRG3_ENST00000404576.2_Missense_Mutation_p.D447Y|NRG3_ENST00000404547.1_Missense_Mutation_p.D667Y	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	667					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AATTCTGACTGATGCCAGACG	0.478000													12	28					3.07112e-06	3.29463e-06	1	1	0
WDR72	256764	broad.mit.edu	37	15	53907946	53907946	+	Silent	SNP	G	G	C	rs148877909		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:53907946G>C	ENST00000396328.1	-	15	2696	c.2457C>G	c.(2455-2457)ctC>ctG	p.L819L	WDR72_ENST00000360509.5_Silent_p.L819L|WDR72_ENST00000557913.1_Silent_p.L816L|WDR72_ENST00000559418.1_Silent_p.L829L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	819			L -> F (in dbSNP:rs17730281).							NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAAAATATTGAGGTGCTTAA	0.368000													24	82					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17735625	17735625	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:17735625C>G	ENST00000375436.4	-	13	1717	c.1530G>C	c.(1528-1530)aaG>aaC	p.K510N	RCC2_ENST00000375433.3_Missense_Mutation_p.K510N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	510					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTTTCTTGATCTTCTCTTTCT	0.547000													8	121					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52638558	52638558	+	Splice_Site	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:52638558C>A	ENST00000399231.3	-	30	4202	c.3959G>T	c.(3958-3960)aGa>aTa	p.R1320I	MYO5A_ENST00000399233.2_Splice_Site_p.R1317I|MYO5A_ENST00000356338.6_Splice_Site_p.R1320M|MYO5A_ENST00000553916.1_Splice_Site_p.R1320M|MYO5A_ENST00000358212.6_Splice_Site_p.R1320I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1320					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATCAACTTACCTATTTGTTTC	0.303000													3	8					0.115264	0.116154	1	1	0
ZNF345	25850	broad.mit.edu	37	19	37367915	37367915	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37367915C>T	ENST00000529555.1	+	2	971	c.183C>T	c.(181-183)ctC>ctT	p.L61L	ZNF345_ENST00000420450.1_Silent_p.L61L|ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000589046.1_Silent_p.L61L|ZNF345_ENST00000432005.2_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	61					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAGAAACTCCTTGAATGTA	0.388000													5	135					0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059471	12059471	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:12059471G>C	ENST00000482090.1	+	3	996	c.578G>C	c.(577-579)aGa>aCa	p.R193T	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.R211T|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGCATTCGAAGACACATGGTA	0.388000													29	59					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40208662	40208662	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:40208662G>C	ENST00000302541.6	+	7	1003	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.E132Q|MYRIP_ENST00000444716.1_Missense_Mutation_p.E221Q|MYRIP_ENST00000425621.1_Missense_Mutation_p.E221Q|MYRIP_ENST00000539167.1_Missense_Mutation_p.E34Q	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	221	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAAGCAAAATGAGGCCAGTTA	0.562000													4	85					0	0	1	0	0
EMCN	51705	broad.mit.edu	37	4	101386598	101386598	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:101386598G>C	ENST00000296420.4	-	4	536	c.358C>G	c.(358-360)Caa>Gaa	p.Q120E	EMCN_ENST00000502327.1_5'UTR|EMCN_ENST00000305864.3_Missense_Mutation_p.Q120E|EMCN_ENST00000511970.1_Missense_Mutation_p.Q120E	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	120	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		TTGGAACTTTGTAATGTTGAA	0.373000													3	44					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1244422	1244422	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:1244422C>A	ENST00000324642.3	+	10	1553	c.1430C>A	c.(1429-1431)tCc>tAc	p.S477Y	SLC6A18_ENST00000296821.4_Missense_Mutation_p.S375Y	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	477					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTTGCCGCTTCCCCGAACCTG	0.582000													7	133					0.27861	0.279038	1	1	0
PML	5371	broad.mit.edu	37	15	74327888	74327888	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:74327888C>G	ENST00000268059.6	+	8	2182	c.2086C>G	c.(2086-2088)Cct>Gct	p.P696A	PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_Missense_Mutation_p.P648A|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000569477.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_3'UTR	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	410					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCCAGCACTCCTGCCATCAC	0.627000			T	"""RARA, PAX5"""	"""APL, ALL"""								4	83					0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176765496	176765496	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:176765496G>A	ENST00000303127.7	-	3	630	c.426C>T	c.(424-426)ctC>ctT	p.L142L	LMAN2_ENST00000515209.1_Silent_p.L142L|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	142	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTGGCACGAGGCGGTCCC	0.652000													8	121					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103470167	103470167	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:103470167C>A	ENST00000358392.2	-	19	2249	c.1932G>T	c.(1930-1932)atG>atT	p.M644I	COL11A1_ENST00000512756.1_Missense_Mutation_p.M516I|COL11A1_ENST00000370096.3_Missense_Mutation_p.M632I|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.M593I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	632	Triple-helical 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			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)		AACATACCCTCATTCCATCAT	0.318000													5	12					3.59834e-05	3.7993e-05	1	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555079	44555079	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:44555079C>G	ENST00000330682.2	-	1	1370	c.1135G>C	c.(1135-1137)Gag>Cag	p.E379Q	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	379	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TTGTCTTTCTCTGTGCGGTAC	0.557000													9	1173					0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43330394	43330394	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:43330394G>C	ENST00000290650.4	-	16	1964	c.1886C>G	c.(1885-1887)tCa>tGa	p.S629*	UBR1_ENST00000382177.2_Nonsense_Mutation_p.S629*	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	629					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATGCAGTCTTGAAACAGCACC	0.348000													10	25					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346318	29346318	+	Silent	SNP	G	G	C	rs150112431		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:29346318G>C	ENST00000558402.1	+	5	830	c.231G>C	c.(229-231)gtG>gtC	p.V77V	APBA2_ENST00000561069.1_Silent_p.V77V|APBA2_ENST00000558330.1_Silent_p.V77V|APBA2_ENST00000558259.1_Silent_p.V77V|APBA2_ENST00000411764.1_Silent_p.V77V			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	77					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTGACTACGTGAACAACACCT	0.637000													10	140					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152676053	152676053	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:152676053C>G	ENST00000367255.5	-	67	11268	c.10667G>C	c.(10666-10668)aGa>aCa	p.R3556T	SYNE1_ENST00000265368.4_Missense_Mutation_p.R3556T|SYNE1_ENST00000448038.1_Missense_Mutation_p.R3563T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R3527T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R3563T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3556					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACATCCTCTCTGGTGTGCAG	0.547000										HNSCC(10;0.0054)			9	117					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119331917	119331917	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:119331917G>T	ENST00000273371.4	+	5	688	c.616G>T	c.(616-618)Gat>Tat	p.D206Y	PLA1A_ENST00000494440.1_Missense_Mutation_p.D190Y|PLA1A_ENST00000495992.1_Missense_Mutation_p.D190Y|PLA1A_ENST00000488919.1_Missense_Mutation_p.D33Y	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	206					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCGCTTGGATGCTGGAGA	0.592000													4	5					0.00024832	0.000259354	1	1	0
CACNG3	10368	broad.mit.edu	37	16	24358087	24358087	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:24358087C>G	ENST00000005284.3	+	2	1446	c.244C>G	c.(244-246)Cac>Gac	p.H82D		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	82					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GAAAATCGATCACTTCCCTGA	0.582000													8	82					0	0	1	0	0
LIN37	55957	broad.mit.edu	37	19	36243370	36243370	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:36243370C>G	ENST00000301159.9	+	3	510	c.146C>G	c.(145-147)tCa>tGa	p.S49*	AC002398.11_ENST00000591091.1_RNA|AC002398.9_ENST00000591613.2_3'UTR	NM_019104.2	NP_061977	Q96GY3	LIN37_HUMAN	lin-37 homolog (C. elegans)	49							protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAAACACCCTCAGACACCCAC	0.532000													14	53					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108496470	108496470	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:108496470G>C	ENST00000408999.3	+	21	5048	c.4971G>C	c.(4969-4971)caG>caC	p.Q1657H	RGPD4_ENST00000354986.4_Missense_Mutation_p.Q1657H	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1657					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AATTGGTTCAGAAGCTCAGTT	0.413000													48	67					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838283	155838283	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:155838283G>C	ENST00000368324.4	+	2	815	c.562G>C	c.(562-564)Gat>Cat	p.D188H	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	188	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCCAGTGATGGATGACCAGAC	0.552000													11	195					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47456103	47456103	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:47456103G>C	ENST00000265565.5	-	21	3758	c.3346C>G	c.(3346-3348)Cag>Gag	p.Q1116E	SCAP_ENST00000441517.2_Missense_Mutation_p.Q860E|SCAP_ENST00000545718.1_Missense_Mutation_p.Q723E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1116	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GAGTGGCCCTGAAGGGTGAAG	0.582000													10	95					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29497567	29497567	+	Missense_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:29497567T>C	ENST00000283351.4	-	3	751	c.416A>G	c.(415-417)cAt>cGt	p.H139R	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.H85R|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.H139R	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	139					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGAAATTCATGATCCAATGC	0.318000													12	101					0	0	1	0	0
IPO13	9670	broad.mit.edu	37	1	44423660	44423660	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:44423660G>C	ENST00000372343.3	+	8	2214	c.1552G>C	c.(1552-1554)Gaa>Caa	p.E518Q		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	518					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGCTCTGTCTGAATGGCTGGC	0.567000													7	294					0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44803821	44803821	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44803821G>C	ENST00000291182.4	-	3	182	c.80C>G	c.(79-81)tCt>tGt	p.S27C	ZNF235_ENST00000589248.1_Missense_Mutation_p.S27C|ZNF235_ENST00000589799.1_Missense_Mutation_p.S27C	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CCTCTGGGCAGAGTCCAGCAG	0.522000													8	308					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33734812	33734812	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:33734812G>A	ENST00000358232.6	+	12	1188		c.e12-1		ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000350494.6_Splice_Site|ELP2_ENST00000542824.1_Splice_Site|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000442325.2_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTCCATTGCAGAGAGAGTGGA	0.428000													5	59					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326282	152326282	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152326282G>C	ENST00000388718.5	-	3	4052	c.3980C>G	c.(3979-3981)tCt>tGt	p.S1327C	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1327							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCATGACCAGAATGGCCATG	0.493000													81	227					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242072348	242072348	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:242072348C>G	ENST00000403638.3	-	9	1495	c.1404G>C	c.(1402-1404)caG>caC	p.Q468H	PASK_ENST00000234040.4_Missense_Mutation_p.Q468H|PASK_ENST00000358649.4_Missense_Mutation_p.Q468H|PASK_ENST00000405260.1_Missense_Mutation_p.Q468H|PASK_ENST00000544142.1_Missense_Mutation_p.Q282H|PASK_ENST00000539818.1_Missense_Mutation_p.Q252H	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	468					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TCAGCTCAGTCTGAGTCCCGG	0.552000													4	44					0	0	1	0	0
ADRBK2	157	broad.mit.edu	37	22	26000384	26000384	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:26000384G>A	ENST00000324198.6	+	2	346	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		N-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	AGAGAGAAATGAAATAACCTT	0.393000													12	32					0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34957049	34957049	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:34957049G>A	ENST00000360359.3	+	9	1396	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	420						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAAGAGGAAGAAGACCACAT	0.413000													28	86					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50829325	50829325	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:50829325C>A	ENST00000398473.2	+	5	565	c.453C>A	c.(451-453)ttC>ttA	p.F151L	LARP4_ENST00000518444.1_Missense_Mutation_p.F150L|LARP4_ENST00000522085.1_Missense_Mutation_p.F151L|LARP4_ENST00000347328.5_Missense_Mutation_p.F151L|LARP4_ENST00000518561.1_Missense_Mutation_p.F81L|LARP4_ENST00000293618.8_Missense_Mutation_p.F151L|LARP4_ENST00000429001.3_Missense_Mutation_p.F157L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	151	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTGATCAGTTCATCCCAATTT	0.303000													9	47					0.361761	0.362177	1	1	0
KMT2A	4297	broad.mit.edu	37	11	118374046	118374046	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:118374046G>A	ENST00000534358.1	+	27	7462	c.7439G>A	c.(7438-7440)cGa>cAa	p.R2480Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.R2439Q|KMT2A_ENST00000389506.5_Missense_Mutation_p.R2477Q	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		ATGGGCCAACGACCATGTAAC	0.448000													9	67					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25758386	25758386	+	RNA	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:25758386C>T	ENST00000586223.1	+	0	2820					NR_033892.1																						AAACAAGCTTCCCATCCTCGT	0.428000											OREG0024258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	32					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39907947	39907947	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39907947C>G	ENST00000564288.1	+	76	19680	c.18903C>G	c.(18901-18903)ctC>ctG	p.L6301L	MACF1_ENST00000545844.1_Silent_p.L4242L|MACF1_ENST00000539005.1_Silent_p.L4112L|MACF1_ENST00000567887.1_Silent_p.L6338L|MACF1_ENST00000372915.3_Silent_p.L6200L|MACF1_ENST00000361689.2_Silent_p.L4242L|MACF1_ENST00000289893.4_Silent_p.L4744L|MACF1_ENST00000317713.7_Silent_p.L4242L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6309					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGACAGAACTCAAACACCTCT	0.448000													6	118					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1414825	1414825	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:1414825G>A	ENST00000270349.9	-	8	1264	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SLC6A3_ENST00000453492.2_Silent_p.I379I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	379					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCACGTCCCCGATGGGCACAC	0.602000													5	49					0	0	1	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217295	150217295	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:150217295G>C	ENST00000313543.4	+	2	390	c.233G>C	c.(232-234)tGc>tCc	p.C78S		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	78							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACACCACCTGCAAGGAAATC	0.557000													3	43					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630882	12630882	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:12630882C>T	ENST00000228862.2	-	7	1514	c.883G>A	c.(883-885)Gag>Aag	p.E295K	DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	295					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E295K(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATCTTCTTCTCATAGTCCAGG	0.438000													12	123					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10939781	10939781	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:10939781G>C	ENST00000314646.5	+	19	2292	c.2128G>C	c.(2128-2130)Gag>Cag	p.E710Q	DNM2_ENST00000359692.6_Missense_Mutation_p.E706Q|DNM2_ENST00000585892.1_Missense_Mutation_p.E710Q|DNM2_ENST00000389253.4_Missense_Mutation_p.E710Q|DNM2_ENST00000408974.4_Missense_Mutation_p.E706Q|DNM2_ENST00000355667.6_Missense_Mutation_p.E710Q			P50570	DYN2_HUMAN	dynamin 2	710	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CAGCCTCATGGAGGAGTCGGC	0.627000			"""F, N, Splice, Mis, O"""		ETP ALL								3	27					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36755344	36755344	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:36755344C>G	ENST00000354618.5	+	5	1948	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	THRAP3_ENST00000469141.2_Missense_Mutation_p.S575C|THRAP3_ENST00000466743.1_3'UTR	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	575					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S575C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGGATGGACTCTTTTGATGAG	0.517000			T	USP6	aneurysmal bone cysts								24	169					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49320804	49320804	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:49320804C>T	ENST00000559471.1	-	5	1003	c.740G>A	c.(739-741)aGa>aAa	p.R247K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.R247K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	247										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGCTCTTCTTCTCCTGCCCTT	0.488000													13	48					0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50571847	50571847	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:50571847C>A	ENST00000547825.1	-	5	1643	c.374G>T	c.(373-375)gGa>gTa	p.G125V	LIMA1_ENST00000552491.1_Missense_Mutation_p.G124V|LIMA1_ENST00000394943.3_Missense_Mutation_p.G428V|LIMA1_ENST00000341247.4_Missense_Mutation_p.G427V|LIMA1_ENST00000552823.1_Missense_Mutation_p.G267V|LIMA1_ENST00000552909.1_Missense_Mutation_p.G266V|LIMA1_ENST00000552783.1_Missense_Mutation_p.G268V	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	427					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TGCATATGTTCCTAGACTGTC	0.358000													6	70					3.59834e-05	3.7993e-05	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50464025	50464025	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:50464025C>T	ENST00000404971.1	-	19	4907	c.3568G>A	c.(3568-3570)Gac>Aac	p.D1190N	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.D1150N|NRXN1_ENST00000405472.3_Missense_Mutation_p.D1142N|NRXN1_ENST00000406316.2_Missense_Mutation_p.D1150N|NRXN1_ENST00000406859.3_Missense_Mutation_p.D1150N|NRXN1_ENST00000342183.5_Missense_Mutation_p.D115N|NRXN1_ENST00000401710.1_Missense_Mutation_p.D168N|NRXN1_ENST00000402717.3_Missense_Mutation_p.D1142N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1150	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.D1190Y(1)|p.D115Y(1)|p.D1150Y(1)|p.D1191Y(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCAGTCTGTCTGCTCGTGTA	0.468000													45	59					0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62205046	62205046	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:62205046G>C	ENST00000394997.1	+	10	1759	c.1494G>C	c.(1492-1494)caG>caC	p.Q498H	HIF1A_ENST00000337138.4_Missense_Mutation_p.Q497H|HIF1A_ENST00000557538.1_Missense_Mutation_p.Q438H|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.Q521H|HIF1A_ENST00000323441.6_Missense_Mutation_p.Q497H			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	497	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TTCAGGATCAGACACCTAGTC	0.413000													85	141					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41155110	41155110	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:41155110C>G	ENST00000263413.3	-	14	2329	c.2065G>C	c.(2065-2067)Gac>Cac	p.D689H	C6_ENST00000337836.5_Missense_Mutation_p.D689H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	689	C5b-binding domain.|Sushi 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAGGTCCCGTCTGGTAAGCAT	0.408000													9	88					0	0	1	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359855	62359855	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:62359855C>T	ENST00000355522.5	+	2	184	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	15						nucleus											TGAGTGCCTTCGGCGGAGCGG	0.652000													4	34					0	0	1	0	0
MPZL3	196264	broad.mit.edu	37	11	118106203	118106203	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:118106203C>A	ENST00000278949.4	-	4	608	c.553G>T	c.(553-555)Gct>Tct	p.A185S	MPZL3_ENST00000527472.1_Missense_Mutation_p.A173S|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	185					cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCCCAGCAGCCTTCCTCCCC	0.542000													15	216					6.31663e-08	6.86384e-08	1	1	0
C11orf72	100505621	broad.mit.edu	37	11	67372436	67372436	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:67372436C>G	ENST00000333139.3	-	3	345	c.105G>C	c.(103-105)agG>agC	p.R35S	C11orf72_ENST00000446232.1_Missense_Mutation_p.R35S			Q8NBR9	CK072_HUMAN	chromosome 11 open reading frame 72	35										central_nervous_system(1)|lung(2)|stomach(1)	4						GAGTGGATCTCCTTCTTCGCT	0.562000													6	8					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26639248	26639248	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:26639248A>G	ENST00000381340.3	-	41	6016	c.5600T>C	c.(5599-5601)tTa>tCa	p.L1867S		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1867					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTTCTGTTAATTGCCCTTT	0.348000													17	81					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43898459	43898459	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:43898459C>G	ENST00000562955.1	+	38	5420	c.5420C>G	c.(5419-5421)tCa>tGa	p.S1807*	SZT2_ENST00000372442.1_Nonsense_Mutation_p.S965*	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1864						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGTGTGGACTCAGACCACCTA	0.577000													5	58					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6534521	6534521	+	Silent	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:6534521A>C	ENST00000377748.1	-	7	1157	c.660T>G	c.(658-660)ctT>ctG	p.L220L	PLEKHG5_ENST00000340850.5_Silent_p.L143L|PLEKHG5_ENST00000377740.3_Silent_p.L220L|PLEKHG5_ENST00000377725.1_Silent_p.L143L|PLEKHG5_ENST00000377737.2_Silent_p.L143L|PLEKHG5_ENST00000535355.1_Silent_p.L212L|PLEKHG5_ENST00000544978.1_Silent_p.L143L|PLEKHG5_ENST00000377732.1_Silent_p.L180L|PLEKHG5_ENST00000537245.1_Silent_p.L222L|PLEKHG5_ENST00000377728.3_Silent_p.L143L|PLEKHG5_ENST00000400913.1_Silent_p.L143L|PLEKHG5_ENST00000400915.3_Silent_p.L199L	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	199					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTGACACGAAGGTAGTGTC	0.622000													3	32					0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648877	41648877	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:41648877C>T	ENST00000313860.7	+	12	1686	c.1632C>T	c.(1630-1632)ccC>ccT	p.P544P	LIMCH1_ENST00000508501.1_Silent_p.P544P|LIMCH1_ENST00000509277.1_Silent_p.P378P|LIMCH1_ENST00000503057.1_Silent_p.P929P|LIMCH1_ENST00000512632.1_Silent_p.P544P|LIMCH1_ENST00000381753.4_Silent_p.P378P|LIMCH1_ENST00000511496.1_Silent_p.P385P|LIMCH1_ENST00000513024.1_Silent_p.P373P|LIMCH1_ENST00000512946.1_Silent_p.P544P|LIMCH1_ENST00000512820.1_Silent_p.P532P|LIMCH1_ENST00000514096.1_Silent_p.P385P|LIMCH1_ENST00000396595.3_Silent_p.P390P	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	544					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACTCCCAGCCCAAAAATTCTC	0.478000													10	132					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71464697	71464697	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:71464697G>T	ENST00000370455.3	+	3	515	c.267G>T	c.(265-267)atG>atT	p.M89I	SMAP1_ENST00000422334.2_Missense_Mutation_p.M89I|SMAP1_ENST00000316999.5_Missense_Mutation_p.M89I|SMAP1_ENST00000370452.3_Missense_Mutation_p.M89I	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	89	Arf-GAP.				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TGCAAGATATGGGAAATACTA	0.303000													14	81					4.3838e-07	4.73596e-07	1	1	0
DGCR6L	85359	broad.mit.edu	37	22	20302993	20302993	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:20302993C>G	ENST00000248879.3	-	4	470	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	DGCR6L_ENST00000405465.3_Missense_Mutation_p.E89Q	NM_033257.3	NP_150282.2	Q9BY27	DGC6L_HUMAN	DiGeorge syndrome critical region gene 6-like	127						nucleus				endometrium(1)|kidney(1)|lung(2)|stomach(1)	5	Colorectal(54;0.0993)					ATCCGGTGTTCCACGGCCTGC	0.672000													17	47					0	0	1	0	0
TUFM	7284	broad.mit.edu	37	16	28856664	28856664	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:28856664C>G	ENST00000313511.3	-	3	523	c.385G>C	c.(385-387)Gac>Cac	p.D129H		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	126						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CCCGGGCAGTCTGTGTGGGCG	0.572000													27	237					0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34785870	34785870	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:34785870C>T	ENST00000338074.2	+	14	1736	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	EPB41L1_ENST00000373941.1_Silent_p.L525L|EPB41L1_ENST00000202028.5_Silent_p.L451L|EPB41L1_ENST00000373946.3_Silent_p.L482L|EPB41L1_ENST00000441639.1_Silent_p.L451L|EPB41L1_ENST00000373950.2_Silent_p.L416L	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	525	Spectrin--actin-binding.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					ACAGCAAACTCATCCACCGGG	0.587000													8	113					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128323085	128323085	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:128323085C>T	ENST00000480462.1	+	5	908	c.802C>T	c.(802-804)Cca>Tca	p.P268S	FAM71F2_ENST00000477515.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.P259S			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	268										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						AGTGGCATCTCCAATCAATTT	0.463000													6	14					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112229906	112229906	+	Silent	SNP	C	C	G	rs71445558		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:112229906C>G	ENST00000261733.2	+	8	898	c.837C>G	c.(835-837)ctC>ctG	p.L279L	ALDH2_ENST00000416293.3_Silent_p.L232L	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	279					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	GCAGCAACCTCAAGAGAGTGA	0.557000			T	HMGA2	leiomyoma								4	83					0	0	1	0	0
C20orf144	128864	broad.mit.edu	37	20	32251432	32251432	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:32251432C>A	ENST00000375222.3	+	2	283	c.221C>A	c.(220-222)tCc>tAc	p.S74Y	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	74										lung(1)	1						GGGCTGGGCTCCCCGGCGGCA	0.721000													4	62					1	1	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64678779	64678779	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:64678779C>G	ENST00000357395.3	+	105	19123	c.7979C>G	c.(7978-7980)tCa>tGa	p.S2660*	SYNE2_ENST00000554584.1_Nonsense_Mutation_p.S6234*|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Nonsense_Mutation_p.S6275*|SYNE2_ENST00000554805.1_Nonsense_Mutation_p.S58*|SYNE2_ENST00000394768.2_Nonsense_Mutation_p.S2660*|SYNE2_ENST00000555002.1_Nonsense_Mutation_p.S2909*|SYNE2_ENST00000344113.4_Nonsense_Mutation_p.S6275*|SYNE2_ENST00000555022.1_Nonsense_Mutation_p.S153*			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6275					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGCACTTCTCAGAGAGTGAC	0.547000													16	109					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136136732	136136732	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:136136732C>G	ENST00000383202.2	-	21	2447	c.2191G>C	c.(2191-2193)Gaa>Caa	p.E731Q	STAG1_ENST00000236698.5_Missense_Mutation_p.E731Q|STAG1_ENST00000434713.2_Missense_Mutation_p.E505Q|STAG1_ENST00000536929.1_Missense_Mutation_p.E315Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	731					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						CCTACCTGTTCTGGCATGGCT	0.348000													6	43					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	366777	366777	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:366777C>G	ENST00000240499.7	+	4	700	c.551C>G	c.(550-552)tCa>tGa	p.S184*	ZNF141_ENST00000512994.1_Nonsense_Mutation_p.S184*|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	184					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAGAAGTTTTCACACCTAACT	0.328000													8	69					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223971951	223971951	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:223971951G>C	ENST00000391878.2	-	18	3610	c.2842C>G	c.(2842-2844)Cag>Gag	p.Q948E	TP53BP2_ENST00000391879.2_Missense_Mutation_p.Q310E|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.Q1077E	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	1071	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TCATCATTCTGAGGTTCATAA	0.423000													17	66					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884922	52884922	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:52884922C>T	ENST00000330722.6	-	3	858	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	264	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		AATTCATTCTCTGCTGCTGTG	0.483000													11	90					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704490	117704490	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:117704490G>A	ENST00000368508.3	-	16	2684	c.2486C>T	c.(2485-2487)tCt>tTt	p.S829F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S824F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	829					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTTTTCCCAGAAAACCAAGG	0.368000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	42					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42880250	42880250	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:42880250G>C	ENST00000334370.4	+	41	8295	c.7660G>C	c.(7660-7662)Gac>Cac	p.D2554H	MEGF8_ENST00000251268.6_Missense_Mutation_p.D2621H|MEGF8_ENST00000378073.4_Missense_Mutation_p.D215H	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2621	Pro-rich.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCGTGGGAGACCCAAGTGG	0.662000													4	154					0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183154	33183154	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:33183154C>G	ENST00000397061.3	+	1	288	c.288C>G	c.(286-288)ttC>ttG	p.F96L		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	96	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CGGCGCCATTCAGCCGCACCG	0.726000													11	93					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74936555	74936555	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:74936555C>A	ENST00000569840.2	+	14	2230	c.1656C>A	c.(1654-1656)ttC>ttA	p.F552L	MGAT5B_ENST00000301618.4_Missense_Mutation_p.F550L|MGAT5B_ENST00000428789.2_Missense_Mutation_p.F561L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	552						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTGCATCTTCCTGCAGTCCC	0.637000													16	199					5.01169e-05	5.28517e-05	1	1	0
GAREM	64762	broad.mit.edu	37	18	29867339	29867339	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:29867339C>T	ENST00000399218.4	-	4	1276	c.1221G>A	c.(1219-1221)agG>agA	p.R407R	GAREM_ENST00000269209.6_Silent_p.R407R	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1			GRB2 associated, regulator of MAPK1																		CCCCCAGGTCCCTGCAACCAT	0.557000													9	47					0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8999045	8999045	+	Splice_Site	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:8999045C>T	ENST00000344836.4	-	14	1770	c.1572G>A	c.(1570-1572)ctG>ctA	p.L524L	USP7_ENST00000535863.1_Splice_Site_p.L425L|USP7_ENST00000381886.4_Splice_Site_p.L508L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	524					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTACTCACTCAGTTTTGATT	0.408000											OREG0023595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	89					0	0	1	0	0
ZBED6CL	113763	broad.mit.edu	37	7	150027745	150027745	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:150027745G>C	ENST00000343855.4	+	1	808	c.252G>C	c.(250-252)aaG>aaC	p.K84N	LRRC61_ENST00000359623.4_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000493307.1_Intron	NM_138434.2	NP_612443.1			ZBED6 C-terminal like																		TCAAGGGGAAGATTGAGGCCA	0.557000													9	142					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440385	40440385	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:40440385C>T	ENST00000319592.4	-	4	1235	c.526G>A	c.(526-528)Gag>Aag	p.E176K	RBM47_ENST00000381793.2_Missense_Mutation_p.E176K|RBM47_ENST00000381795.6_Missense_Mutation_p.E176K|RBM47_ENST00000514014.1_Missense_Mutation_p.E138K|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.E176K			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	176	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCACGCCCTCGGTGACCTTG	0.637000													13	132					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112018500	112018500	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:112018500C>G	ENST00000374566.3	-	9	1362	c.845G>C	c.(844-846)aGa>aCa	p.R282T	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.R282T	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	282	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACAGCCATCTCTTCCCTACAA	0.398000													12	90					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66356309	66356309	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:66356309C>G	ENST00000273854.3	-	5	1788	c.1188G>C	c.(1186-1188)aaG>aaC	p.K396N	EPHA5_ENST00000354839.4_Missense_Mutation_p.K396N|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000511294.1_Missense_Mutation_p.K396N	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	396	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGTTGCACTTCTTGCATGCAA	0.488000										TSP Lung(17;0.13)			16	30					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64601699	64601699	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:64601699C>G	ENST00000587624.1	+	0	97																											AGAAGCTCATCGGCATCTCCA	0.692000													4	11					0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31858990	31858990	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:31858990C>T	ENST00000397525.1	-	6	938	c.715G>A	c.(715-717)Gat>Aat	p.D239N	RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.D239N|EIF4ENIF1_ENST00000344710.5_Intron|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.D239N|RP11-247I13.8_ENST00000439588.1_RNA	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	239						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCTTATCATCAAAGCCAGTC	0.453000													3	25					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111319756	111319756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:111319756C>A	ENST00000257347.4	-	8	913	c.850G>T	c.(850-852)Gaa>Taa	p.E284*	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	284					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	ATTTCGTTTTCATGATGTGGA	0.378000													17	59					4.14922e-12	4.60455e-12	1	1	0
ARHGAP18	93663	broad.mit.edu	37	6	129962991	129962991	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:129962991G>C	ENST00000368149.2	-	2	374	c.286C>G	c.(286-288)Caa>Gaa	p.Q96E		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	96					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ACCACCTCTTGATCTTCTTGG	0.333000													9	58					0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87902623	87902623	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:87902623C>G	ENST00000261622.4	-	1	471	c.406G>C	c.(406-408)Gag>Cag	p.E136Q		NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	136					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		ATGAGCAGCTCGATCCAGAGC	0.642000													7	30					0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76932868	76932868	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:76932868C>A	ENST00000306422.3	-	2	1363	c.225G>T	c.(223-225)gtG>gtT	p.V75V		NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CTTTGGCGCTCACCGCCAGCG	0.711000													13	45					6.72482e-11	7.41863e-11	1	1	0
SLC8A2	6543	broad.mit.edu	37	19	47969401	47969401	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:47969401G>C	ENST00000236877.6	-	2	655	c.260C>G	c.(259-261)tCc>tGc	p.S87C	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	87					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GGCGATGATGGACACTCCCAG	0.607000													9	25					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150404951	150404951	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:150404951C>T	ENST00000388825.4	+	2	230	c.138C>T	c.(136-138)ctC>ctT	p.L46L	GPX3_ENST00000521722.1_3'UTR|GPX3_ENST00000517973.1_Intron	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	46					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	ACGGAGCCCTCACCATTGATG	0.527000													6	68					0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57747015	57747015	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:57747015C>G	ENST00000261558.3	+	3	1229	c.823C>G	c.(823-825)Ctt>Gtt	p.L275V	AP5M1_ENST00000556723.1_3'UTR|AP5M1_ENST00000431972.2_Missense_Mutation_p.L289V	NM_018229.3	NP_060699.3	Q9H0R1	MUDEN_HUMAN	adaptor-related protein complex 5, mu 1 subunit	275	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											TGTAACTTCTCTTGACTCTGC	0.413000													13	156					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77255257	77255257	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:77255257C>G	ENST00000388914.3	-	18	2880	c.2728G>C	c.(2728-2730)Gag>Cag	p.E910Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	910										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCTCAACTCTTGGAGAAGC	0.438000													4	146					0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137727291	137727291	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:137727291C>G	ENST00000314358.5	+	8	2170	c.1970C>G	c.(1969-1971)tCa>tGa	p.S657*	KDM3B_ENST00000394866.1_Nonsense_Mutation_p.S313*|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	657	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTCAGGCATCAGGTAGCTCC	0.512000													10	78					0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12043947	12043947	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:12043947G>A	ENST00000396373.4	+	8	1600	c.1326G>A	c.(1324-1326)ctG>ctA	p.L442L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	442						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCCAGGAGCTGGATGAACAAA	0.522000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								7	263					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41585773	41585773	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:41585773G>C	ENST00000262415.3	+	16	2459	c.2387G>C	c.(2386-2388)aGa>aCa	p.R796T	DHX8_ENST00000540306.1_Missense_Mutation_p.R796T	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	796	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTGTATGAAAGAATGAAATCC	0.453000													8	100					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54147473	54147473	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:54147473C>T	ENST00000265572.3	-	3	753	c.456G>A	c.(454-456)atG>atA	p.M152I	OPRK1_ENST00000520287.1_Missense_Mutation_p.M152I|OPRK1_ENST00000524278.1_Missense_Mutation_p.M63I|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	152					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GGTCCACGCTCATCATGGTCA	0.483000													6	59					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069986	29069986	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:29069986G>T	ENST00000373812.3	+	4	1566	c.1204G>T	c.(1204-1206)Gat>Tat	p.D402Y	YTHDF2_ENST00000541996.1_Missense_Mutation_p.D352Y|YTHDF2_ENST00000542507.1_Missense_Mutation_p.D402Y|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	402					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TAACCCCAAAGATTTTGACTG	0.438000													7	63					0.000157383	0.000164971	1	1	0
RP11-481J13.1	0	broad.mit.edu	37	2	56216089	56216089	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:56216089G>A	ENST00000606639.1	+	0	82				AC011306.2_ENST00000446139.1_lincRNA|MIR216A_ENST00000385063.1_RNA																							TTTGATTCGTGAGGGCTAGGA	0.428000													9	163					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053338	17053338	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:17053338G>A	ENST00000418129.2	+	2	2587	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	PLCL2_ENST00000396755.2_Missense_Mutation_p.D708N|PLCL2_ENST00000432376.1_Missense_Mutation_p.D708N	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	834	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGTGCTGGATGATGACTACAT	0.478000													16	73					0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716929	153716929	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:153716929G>A	ENST00000263512.4	-	2	849	c.351C>T	c.(349-351)atC>atT	p.I117I	SLC10A3_ENST00000369649.4_Silent_p.I117I|SLC10A3_ENST00000393587.4_Silent_p.I117I|SLC10A3_ENST00000393586.1_Silent_p.I172I	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	117					organic anion transport	integral to membrane	bile acid:sodium symporter activity	p.I117I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACGTTCTTGATGGTCAGCA	0.637000													11	75					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18876381	18876381	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:18876381G>A	ENST00000266505.7	-	4	494	c.231C>T	c.(229-231)ttC>ttT	p.F77F	PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000435379.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000447925.2_Silent_p.F75F			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	77					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATATGTGTTGAAAATCTCAA	0.348000													11	35					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97814395	97814395	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:97814395C>T	ENST00000297293.5	+	8	1117	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	275	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTTCTCACCTCCGACTTAAAT	0.408000													8	42					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80019597	80019597	+	Splice_Site	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:80019597C>T	ENST00000354321.7	-	6	1079	c.594G>A	c.(592-594)cgG>cgA	p.R198R	DUS1L_ENST00000306796.5_Splice_Site_p.R198R			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	198					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCACAGCCTTCCTGTTGGCAG	0.662000													13	104					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	988905	988905	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:988905C>G	ENST00000315939.6	+	11	3183	c.2540C>G	c.(2539-2541)tCa>tGa	p.S847*	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000340908.4_Nonsense_Mutation_p.S440*|WNK1_ENST00000530271.2_Nonsense_Mutation_p.S1345*|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	847					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ATTCCCATATCAACTCCTCAT	0.537000													5	197					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32745269	32745269	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:32745269C>T	ENST00000380250.3	+	18	2509	c.2013C>T	c.(2011-2013)ctC>ctT	p.L671L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	671					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTTCCTGCTCCGGGAAGTAA	0.443000													6	78					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44665388	44665388	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:44665388C>G	ENST00000243964.3	+	5	533	c.435C>G	c.(433-435)ctC>ctG	p.L145L	SLC12A5_ENST00000372315.1_Silent_p.L145L|SLC12A5_ENST00000608944.1_Silent_p.L94L|SLC12A5_ENST00000454036.2_Silent_p.L168L	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	168					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGACGATGCTCACGGCCATCT	0.592000													19	64					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774884	31774884	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:31774884G>T	ENST00000396556.2	-	6	1082	c.960C>A	c.(958-960)caC>caA	p.H320Q	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.H256Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	320					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTGGACCCGTGCCATCCCA	0.408000													8	112					0.00621372	0.00635748	1	1	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074353	46074353	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:46074353C>T	ENST00000391618.1	-	1	223	c.179G>A	c.(178-180)tGc>tAc	p.C60Y	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	60	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						GGGCACACAGCAGGCTGGCTG	0.662000													5	56					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77530085	77530085	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:77530085G>C	ENST00000416283.2	+	4	298	c.172G>C	c.(172-174)Gat>Cat	p.D58H	PHTF2_ENST00000275575.7_Missense_Mutation_p.D54H|PHTF2_ENST00000307305.8_Missense_Mutation_p.D54H|PHTF2_ENST00000422959.2_Missense_Mutation_p.D58H|PHTF2_ENST00000415251.2_Missense_Mutation_p.D54H|PHTF2_ENST00000450574.1_Missense_Mutation_p.D58H|PHTF2_ENST00000248550.7_Missense_Mutation_p.D92H|PHTF2_ENST00000424760.1_Missense_Mutation_p.D54H	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CATAGATGTTGATCTTGTAAG	0.308000													5	47					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10742593	10742593	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:10742593G>C	ENST00000586078.1	+	9	785	c.676G>C	c.(676-678)Gaa>Caa	p.E226Q	SLC44A2_ENST00000335757.5_Missense_Mutation_p.E226Q|SLC44A2_ENST00000407327.4_Missense_Mutation_p.E224Q	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	226					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCGCATATTTGAAGATTACAC	0.577000													7	99					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5733343	5733343	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:5733343C>T	ENST00000382674.2	+	4	760	c.576C>T	c.(574-576)ttC>ttT	p.F192F	EVC_ENST00000264956.6_Silent_p.F192F|EVC_ENST00000509451.1_Silent_p.F192F			P57679	EVC_HUMAN	Ellis van Creveld syndrome	192					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCCGCACCTTCCTCCGGGTGA	0.632000													5	64					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128415615	128415615	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:128415615G>C	ENST00000249389.2	-	1	229	c.230C>G	c.(229-231)tCc>tGc	p.S77C		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	77					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GCCTCCGAAGGACACGTTGAC	0.537000													18	182					0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:26056117C>A	ENST00000343677.2	-	1	582	c.540G>T	c.(538-540)gcG>gcT	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542000													18	113					1.15919e-05	1.23442e-05	1	1	0
OR51I1	390063	broad.mit.edu	37	11	5461914	5461914	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:5461914C>G	ENST00000380211.1	-	1	830	c.831G>C	c.(829-831)atG>atC	p.M277I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGGACATCATGACATGAA	0.458000													17	54					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161536185	161536185	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:161536185C>G	ENST00000392142.4	+	26	4805	c.4657C>G	c.(4657-4659)Caa>Gaa	p.Q1553E	MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q1499E|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q1503E|MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q1549E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1553	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCACAACTTTCAAATTATGTA	0.393000													10	34					0	0	1	0	0
FBXL5	26234	broad.mit.edu	37	4	15646174	15646174	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:15646174G>C	ENST00000341285.3	-	2	366	c.242C>G	c.(241-243)tCt>tGt	p.S81C	FBXL5_ENST00000412094.2_Missense_Mutation_p.S64C|FBXL5_ENST00000382358.4_5'UTR	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	81	Hemerythrin-like.				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						TTTATTGTCAGAATGTACATT	0.363000													13	52					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39384793	39384793	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39384793C>G	ENST00000289248.2	-	2	1100	c.92G>C	c.(91-93)aGa>aCa	p.R31T	RHBDL2_ENST00000372990.1_Missense_Mutation_p.R31T|RHBDL2_ENST00000540558.1_Missense_Mutation_p.R31T|RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000538156.1_Missense_Mutation_p.R98T|RHBDL2_ENST00000372985.3_Missense_Mutation_p.R111T			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	31					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CCCATCCTCTCTCATTTTCTC	0.488000													16	291					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484544	43484544	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:43484544C>G	ENST00000395891.2	+	11	2378	c.1773C>G	c.(1771-1773)ctC>ctG	p.L591L	HECW1_ENST00000453890.1_Silent_p.L591L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGTCCACCCTCAAGGACTCCT	0.677000													11	54					0	0	1	0	0
PLA2G5	5322	broad.mit.edu	37	1	20412623	20412623	+	Missense_Mutation	SNP	G	G	C	rs141524733		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:20412623G>C	ENST00000375108.3	+	3	356	c.88G>C	c.(88-90)Gag>Cag	p.E30Q	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	30					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		ATCAATGATCGAGAAGGTGAC	0.592000													15	59					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49169963	49169963	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49169963C>T	ENST00000418109.1	-	3	374	c.210G>A	c.(208-210)ctG>ctA	p.L70L	LAMB2_ENST00000305544.4_Silent_p.L70L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	70	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGGGCCATTCAGGCCACAAG	0.662000													10	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596062	179596062	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:179596062G>C	ENST00000589042.1	-	59	17655	c.17431C>G	c.(17431-17433)Caa>Gaa	p.Q5811E	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q5494E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q4567E|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5494	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACATCTTTGTATTCCTGCA	0.423000													41	185					0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117484346	117484346	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:117484346G>A	ENST00000393203.2	+	2	206	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	20						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCTCTTTGCCGAGGGCGTGTG	0.547000													7	92					0	0	1	0	0
LOH12CR1	118426	broad.mit.edu	37	12	12588651	12588651	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:12588651G>C	ENST00000314565.4	+	3	623	c.292G>C	c.(292-294)Gat>Cat	p.D98H	LOH12CR1_ENST00000298571.6_Missense_Mutation_p.D50H|LOH12CR1_ENST00000542728.1_Missense_Mutation_p.D79H	NM_058169.3	NP_477517.1	Q969J3	L12R1_HUMAN	loss of heterozygosity, 12, chromosomal region 1	98										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.0205)		CCGATATCAAGATCACCTGCA	0.478000													18	39					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634499	1634499	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:1634499C>G	ENST00000409644.1	+	4	4104	c.4104C>G	c.(4102-4104)atC>atG	p.I1368M	WDR81_ENST00000419248.1_Missense_Mutation_p.I141M|WDR81_ENST00000309182.5_Missense_Mutation_p.I317M|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.I165M|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000446363.1_Missense_Mutation_p.I7M	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	141										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCCCCGGATCAGCCATGAGG	0.652000													4	48					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146471475	146471475	+	Splice_Site	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:146471475T>C	ENST00000361727.3	+	2	724		c.e2+2			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			AGAGAGGAGGTAAGCCAAATT	0.393000										HNSCC(39;0.1)			4	22					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74970001	74970001	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:74970001G>A	ENST00000261978.4	-	33	5195	c.4809C>T	c.(4807-4809)cgC>cgT	p.R1603R	LTBP2_ENST00000556690.1_Silent_p.R1559R	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1603	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGTAGGTGGTGCGGTGCCCAC	0.617000													8	36					0	0	1	0	0
TYW3	127253	broad.mit.edu	37	1	75199047	75199047	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:75199047G>A	ENST00000370867.3	+	1	208	c.119G>A	c.(118-120)cGa>cAa	p.R40Q	TYW3_ENST00000457880.2_Missense_Mutation_p.R40Q|TYW3_ENST00000421739.2_Missense_Mutation_p.R40Q|CRYZ_ENST00000417775.1_5'UTR|TYW3_ENST00000479111.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	40					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						CTGAACATGCGAGATCAGTTT	0.562000													13	24					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90144983	90144983	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:90144983C>G	ENST00000268138.7	+	12	2448	c.2343C>G	c.(2341-2343)atC>atG	p.I781M	TICRR_ENST00000560985.1_Missense_Mutation_p.I780M					TOPBP1-interacting checkpoint and replication regulator																		TTGACTCTATCCCAAAGACAC	0.438000													24	77					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186943235	186943235	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:186943235G>C	ENST00000337774.5	-	13	2007	c.1618C>G	c.(1618-1620)Ctc>Gtc	p.L540V		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	540	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGGGGGTGGAGAGTGGTGTGT	0.537000													8	205					0	0	1	0	0
YTHDF2	51441	broad.mit.edu	37	1	29069442	29069442	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:29069442C>T	ENST00000373812.3	+	4	1022	c.660C>T	c.(658-660)atC>atT	p.I220I	YTHDF2_ENST00000541996.1_Silent_p.I170I|YTHDF2_ENST00000542507.1_Silent_p.I220I|YTHDF2_ENST00000478283.1_3'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	220					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTAGTAACATCGTGGCTTCCA	0.478000													39	91					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43437963	43437963	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:43437963C>G	ENST00000282041.5	-	42	7331	c.7297G>C	c.(7297-7299)Gag>Cag	p.E2433Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2433					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCATTCTGCTCTGTCTGAATG	0.517000													5	32					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179082151	179082151	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:179082151C>G	ENST00000471841.1	+	6	729	c.603C>G	c.(601-603)gtC>gtG	p.V201V	MFN1_ENST00000280653.7_Silent_p.V201V|MFN1_ENST00000263969.5_Silent_p.V201V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	201					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGCTGATGTCTTTGTTTTGG	0.343000													5	45					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29683574	29683574	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:29683574G>C	ENST00000358273.4	+	52	8095	c.7712G>C	c.(7711-7713)aGa>aCa	p.R2571T	NF1_ENST00000356175.3_Missense_Mutation_p.R2550T|NF1_ENST00000444181.2_Missense_Mutation_p.R364T|NF1_ENST00000417592.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2571					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATGAGGAGAGTAGCAGAA	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	59					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6953045	6953045	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:6953045C>T	ENST00000229264.3	+	9	1007	c.602C>T	c.(601-603)tCg>tTg	p.S201L	GNB3_ENST00000435982.2_Missense_Mutation_p.S200L	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	201					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CTCTTCATTTCGGGGGCCTGT	0.562000													24	105					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17313011	17313011	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:17313011G>C	ENST00000595618.1	+	28	4887	c.4735G>C	c.(4735-4737)Gag>Cag	p.E1579Q	MYO9B_ENST00000594824.1_Missense_Mutation_p.E1579Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.E1579Q	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1579	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTGGCCACTGAGCGTGGCCA	0.552000													4	29					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236341744	236341744	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:236341744C>G	ENST00000366592.3	+	3	586	c.495C>G	c.(493-495)atC>atG	p.I165M	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	165						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCCTCTTCATCAGCCTTGTTT	0.502000													5	46					0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43859724	43859724	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:43859724G>C	ENST00000378009.4	+	0	421				CD177_ENST00000607517.1_RNA|CD177_ENST00000378012.2_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GTTGACTCTTGAGGCCAGCAA	0.507000													15	42					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081719	152081719	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152081719C>G	ENST00000368804.1	-	2	3973	c.3974G>C	c.(3973-3975)aGa>aCa	p.R1325T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1325	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCTCTTCTCTTTCCTCTCT	0.547000													25	278					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84517982	84517982	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:84517982G>C	ENST00000331369.5	+	0	176																											GGGAGATATTGAGTCAGTGGA	0.547000													10	40					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43522337	43522337	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:43522337C>T	ENST00000400424.2	+	8	1428	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	C21orf128_ENST00000329015.2_3'UTR|UMODL1_ENST00000408910.2_Silent_p.L416L|UMODL1_ENST00000408989.2_Silent_p.L416L|UMODL1_ENST00000400427.1_Silent_p.L344L	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGAAGTTACTCAACCGCAGCA	0.438000													11	53					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29117667	29117667	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:29117667G>C	ENST00000407426.3	+	1	159	c.103G>C	c.(103-105)Gac>Cac	p.D35H		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	35						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GGCCTCTACCGACGGTCACTT	0.687000													8	15					0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19585255	19585255	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:19585255G>A	ENST00000330263.4	+	8	948	c.651G>A	c.(649-651)caG>caA	p.Q217Q		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	217					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCCAGCAGATGGGAGACG	0.498000													6	54					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58437902	58437902	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58437902C>G	ENST00000396147.1	-	4	1938	c.1647G>C	c.(1645-1647)caG>caC	p.Q549H	ZNF418_ENST00000595830.1_Missense_Mutation_p.Q549H|ZNF418_ENST00000599852.1_Missense_Mutation_p.Q464H|ZNF418_ENST00000425570.3_Missense_Mutation_p.Q570H|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		GGGAAGAGCTCTGATGAAATG	0.453000													24	49					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193384097	193384097	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:193384097G>C	ENST00000361510.2	+	28	3025	c.2791G>C	c.(2791-2793)Gat>Cat	p.D931H	OPA1_ENST00000361828.2_Missense_Mutation_p.D894H|OPA1_ENST00000392438.3_Missense_Mutation_p.D876H|OPA1_ENST00000361908.3_Missense_Mutation_p.D913H|OPA1_ENST00000361715.2_Missense_Mutation_p.D895H|OPA1_ENST00000361150.2_Missense_Mutation_p.D877H	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	876					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAATGCAATGATGTGGTCTT	0.368000													9	48					0	0	1	0	0
PURB	5814	broad.mit.edu	37	7	44924367	44924367	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:44924367C>T	ENST00000395699.2	-	1	593	c.581G>A	c.(580-582)gGa>gAa	p.G194E		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	194	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						GTCCTCGCCTCCGTAGTCGTC	0.741000													4	44					0	0	1	0	0
RAET1L	154064	broad.mit.edu	37	6	150342130	150342130	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:150342130G>C	ENST00000367341.1	-	3	541	c.542C>G	c.(541-543)tCc>tGc	p.S181C	RAET1L_ENST00000286380.2_Missense_Mutation_p.S181C			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	181	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		GTAATGGAAGGACATGGCCAC	0.488000													16	92					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99515669	99515669	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:99515669C>G	ENST00000376460.1	-	31	3500	c.3420G>C	c.(3418-3420)aaG>aaC	p.K1140N	DOCK9_ENST00000448493.2_Missense_Mutation_p.K1152N|DOCK9_ENST00000339416.2_Missense_Mutation_p.K1141N|DOCK9_ENST00000461998.1_5'UTR|DOCK9_ENST00000442173.1_Missense_Mutation_p.K1140N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1141					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAGCAGGTTCTTGAGCACAC	0.488000													14	84					0	0	1	0	0
FAM169B	283777	broad.mit.edu	37	15	98984366	98984366	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:98984366C>G	ENST00000558256.1	-	6	642	c.393G>C	c.(391-393)gtG>gtC	p.V131V	FAM169B_ENST00000332908.4_Silent_p.V131V	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	131										large_intestine(3)|lung(3)|urinary_tract(1)	7						CATGACGGCTCACGTCCTCGG	0.547000													8	27					0	0	1	0	0
PPM1F	9647	broad.mit.edu	37	22	22287815	22287815	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:22287815C>G	ENST00000407142.1	-	3	1251	c.191G>C	c.(190-192)aGa>aCa	p.R64T	PPM1F_ENST00000397495.4_Missense_Mutation_p.R232T|PPM1F_ENST00000263212.5_Missense_Mutation_p.R232T|PPM1F_ENST00000538191.1_Missense_Mutation_p.R128T			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	232					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		GAAGGCTTCTCTGAGGGCTCC	0.652000													7	65					0	0	1	0	0
TFR2	7036	broad.mit.edu	37	7	100228520	100228520	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:100228520G>C	ENST00000462107.1	-	10	1549	c.1262C>G	c.(1261-1263)tCa>tGa	p.S421*	TFR2_ENST00000223051.3_Nonsense_Mutation_p.S421*|TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000431692.1_Silent_p.L335L			Q9UP52	TFR2_HUMAN	transferrin receptor 2	421					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCTGGCTCTGAGCGGCCTTC	0.597000													4	83					0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111413490	111413490	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:111413490C>T	ENST00000535254.1	-	15	1709	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	BUB1_ENST00000302759.6_Missense_Mutation_p.E568K|BUB1_ENST00000409311.1_Missense_Mutation_p.E568K	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	568					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGAGGCACTTCCTCCTATAAC	0.418000													27	156					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15703562	15703562	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:15703562C>T	ENST00000396368.3	-	20	3978	c.3772G>A	c.(3772-3774)Gaa>Aaa	p.E1258K	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000602337.1_Missense_Mutation_p.E1255K|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E1258K|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E1093K|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E1255K|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E860K	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1257						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTGTCCTTTCTATTTCATCC	0.373000													5	28					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179590204	179590204	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:179590204C>G	ENST00000444136.1	+	6	1200	c.950C>G	c.(949-951)tCt>tGt	p.S317C	TDRD5_ENST00000294848.8_Missense_Mutation_p.S317C|TDRD5_ENST00000367614.1_Missense_Mutation_p.S317C	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	317	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTGTTTATTTCTAAACTGCTT	0.333000													4	59					0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874754	75874754	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:75874754G>A	ENST00000266659.3	+	1	295	c.94G>A	c.(94-96)Gat>Aat	p.D32N		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	32					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CGAAAATGAAGATTTCATCAA	0.378000													17	38					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155452123	155452123	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:155452123G>C	ENST00000368346.3	-	3	1177	c.538C>G	c.(538-540)Cca>Gca	p.P180A	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Missense_Mutation_p.P180A			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	180					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAGTGTACTGGAGACAGCTTC	0.428000													4	245					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156513983	156513983	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156513983C>T	ENST00000361170.2	-	21	2431	c.2421G>A	c.(2419-2421)cgG>cgA	p.R807R		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	807	IQ 3.				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTATTGCCTCCGAGCTGCCC	0.577000													34	200					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10670507	10670507	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:10670507G>A	ENST00000312962.6	-	10	943	c.924C>T	c.(922-924)ttC>ttT	p.F308F	KRI1_ENST00000361821.5_Silent_p.F304F	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	308	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCGGCTCCTCGAAACGGAAAT	0.597000													19	70					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57493459	57493459	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:57493459G>A	ENST00000351747.2	-	8	988	c.808C>T	c.(808-810)Ctc>Ttc	p.L270F	DNAH12_ENST00000389536.4_Missense_Mutation_p.L270F|DNAH12_ENST00000311202.6_Missense_Mutation_p.L270F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	270	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTGGTAAAGAGATTTATAACC	0.353000													5	58					0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72723290	72723290	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:72723290G>C	ENST00000377182.4	+	3	929	c.312G>C	c.(310-312)atG>atC	p.M104I	MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	104	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						ACCTCTACATGAGATTTGAAG	0.483000													7	35					0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30643153	30643153	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:30643153G>A	ENST00000389266.3	+	6	941	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	234					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GTGTTCTGTCGAAAAGAAATC	0.378000													11	42					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202272280	202272280	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:202272280C>A	ENST00000332624.3	-	3	560	c.132G>T	c.(130-132)gtG>gtT	p.V44V	TRAK2_ENST00000430254.1_Silent_p.V44V	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	44						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CTAGCAGACTCACCAGCTCAA	0.418000													6	60					0.0293803	0.0297452	1	1	0
PRAM1	84106	broad.mit.edu	37	19	8563920	8563920	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:8563920G>C	ENST00000423345.4	-	2	1292	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	PRAM1_ENST00000255612.3_Missense_Mutation_p.Q258E			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	306	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGCTGGACTGAGGCTTCCAG	0.642000													9	82					0	0	1	0	0
WTIP	126374	broad.mit.edu	37	19	34984510	34984510	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:34984510C>T	ENST00000590071.2	+	5	1351	c.1014C>T	c.(1012-1014)tgC>tgT	p.C338C	WTIP_ENST00000270288.6_Silent_p.C562C	NM_001080436.1	NP_001073905.1			Wilms tumor 1 interacting protein											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ACATCTACTGCGTGCGAGACT	0.602000													5	202					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659451	50659451	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:50659451G>C	ENST00000252677.3	+	2	1023	c.1023G>C	c.(1021-1023)caG>caC	p.Q341H		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	341					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCATTATTCAGAACCTTATCA	0.483000													12	151					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101604099	101604099	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:101604099G>T	ENST00000370449.4	+	28	3977	c.3864G>T	c.(3862-3864)aaG>aaT	p.K1288N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1288						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGACTGATAAGAGGCCTCCGC	0.527000													5	47					0.014758	0.0150053	1	1	0
SPAG8	26206	broad.mit.edu	37	9	35811780	35811780	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:35811780G>T	ENST00000340291.2	-	2	387	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	SPAG8_ENST00000484764.1_Missense_Mutation_p.S86Y|SPAG8_ENST00000396638.2_Missense_Mutation_p.S88Y	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	88						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGGGGTCAGAGGACGGCTC	0.562000													37	89					4.11147e-13	4.58216e-13	1	1	0
RFX3	5991	broad.mit.edu	37	9	3248113	3248113	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:3248113G>C	ENST00000382004.3	-	16	2198	c.1887C>G	c.(1885-1887)ctC>ctG	p.L629L	RFX3_ENST00000302303.1_Silent_p.L629L|RFX3_ENST00000358730.2_Silent_p.L629L	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	629					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ATTCGTCGTAGAGTAGACGGA	0.458000													12	56					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338000													5	72					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191302212	191302212	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:191302212C>A	ENST00000392328.1	+	3	1781	c.1457C>A	c.(1456-1458)tCa>tAa	p.S486*	MFSD6_ENST00000281416.7_Nonsense_Mutation_p.S486*	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	486					transmembrane transport	integral to membrane		p.S486L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGGGTCTGTTCAGTCCTGAGT	0.448000													38	77					2.75727e-19	3.10208e-19	1	1	0
ZFPM2	23414	broad.mit.edu	37	8	106801020	106801020	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:106801020G>C	ENST00000407775.2	+	6	857	c.607G>C	c.(607-609)Gac>Cac	p.D203H	ZFPM2_ENST00000520492.1_Missense_Mutation_p.D71H|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.D71H|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	203					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGTGGATTTTGACTCAAGGCT	0.478000													10	86					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101020674	101020674	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:101020674C>G	ENST00000360863.6	-	15	2484	c.2290G>C	c.(2290-2292)Gaa>Caa	p.E764Q	RGS22_ENST00000523287.1_Missense_Mutation_p.E583Q|RGS22_ENST00000523437.1_Missense_Mutation_p.E752Q|RGS22_ENST00000519421.1_5'UTR	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	764					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGATATATTCCTCTGCTGTG	0.393000													44	60					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20071509	20071509	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:20071509C>G	ENST00000245957.5	+	7	664	c.588C>G	c.(586-588)ctC>ctG	p.L196L	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.L196L|C20orf26_ENST00000377306.1_Silent_p.L196L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	196										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATGACGATCTCATGCCAATAT	0.438000													7	161					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73770796	73770796	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:73770796G>A	ENST00000223398.6	+	5	1187	c.860G>A	c.(859-861)cGt>cAt	p.R287H	CLIP2_ENST00000361545.5_Missense_Mutation_p.R287H|CLIP2_ENST00000395060.1_Missense_Mutation_p.R287H	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	287						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AAAGTGATCCGTATCGGCTTC	0.582000													10	149					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208577	58208577	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:58208577G>T	ENST00000377918.3	+	1	1923	c.1897G>T	c.(1897-1899)Gac>Tac	p.D633Y		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	633	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGCAACGACGACCACCTGTT	0.647000													9	199					1.12685e-05	1.20047e-05	1	1	0
LRP6	4040	broad.mit.edu	37	12	12302025	12302025	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:12302025G>A	ENST00000261349.4	-	14	3133	c.3057C>T	c.(3055-3057)ctC>ctT	p.L1019L	LRP6_ENST00000543091.1_Silent_p.L1019L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1019	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATCAATGCTGAGGTCATAGG	0.423000													23	297					0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989636	73989636	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:73989636G>A	ENST00000553558.1	-	3	542	c.221C>T	c.(220-222)tCt>tTt	p.S74F	RP3-414A15.2_ENST00000555972.2_RNA|HEATR4_ENST00000334988.2_Missense_Mutation_p.S74F|HEATR4_ENST00000560393.1_Missense_Mutation_p.S27F	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CACCTCCTGAGAGAAGGTAAG	0.512000													5	83					0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9525819	9525819	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:9525819C>T	ENST00000019317.4	+	6	1540	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	RALBP1_ENST00000383432.3_Silent_p.L439L			Q15311	RBP1_HUMAN	ralA binding protein 1	439	Interacts with RalA.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TGACAGCCCTCAAAAGAAAAC	0.318000													12	73					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:3427759C>T	ENST00000529482.1	+	0	876																											TGTCTGCACACGTCCTGCAGT	0.612000													4	49					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20216169	20216169	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:20216169C>G	ENST00000412997.1	-	6	1205	c.854G>C	c.(853-855)aGa>aCa	p.R285T	SGOL1_ENST00000412868.1_Missense_Mutation_p.R285T|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.R285T|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.R285T|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	285					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ttgtgtatctctttgcttact	0.289000													20	22					0	0	1	0	0
MGAT4A	11320	broad.mit.edu	37	2	99291546	99291546	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:99291546C>G	ENST00000264968.3	-	3	718	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	MGAT4A_ENST00000409391.1_Missense_Mutation_p.E119Q|MGAT4A_ENST00000393487.1_Missense_Mutation_p.E119Q			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AGACTTCCTTCATTTTTCAAT	0.343000													29	34					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114175017	114175017	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:114175017C>G	ENST00000434316.2	+	8	1671	c.1312C>G	c.(1312-1314)Ctc>Gtc	p.L438V	TMCO3_ENST00000375391.1_Intron|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	438						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CATGCCGACTCTCATACAGGC	0.498000													7	42					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201184746	201184746	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:201184746G>T	ENST00000335211.4	+	15	9205	c.9075G>T	c.(9073-9075)gtG>gtT	p.V3025V	IGFN1_ENST00000295591.8_Silent_p.V185V|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CGGTGATAGTGAAGATCCCCT	0.572000													5	43					0.00198382	0.00203771	1	1	0
NRG1	3084	broad.mit.edu	37	8	32621438	32621438	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:32621438G>C	ENST00000338921.4	+	13	1982	c.1465G>C	c.(1465-1467)Gtg>Ctg	p.V489L	NRG1_ENST00000287842.3_Missense_Mutation_p.V478L|NRG1_ENST00000287845.5_Missense_Mutation_p.V452L|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.3_Missense_Mutation_p.V481L|NRG1_ENST00000356819.4_Missense_Mutation_p.V486L|NRG1_ENST00000519301.1_Missense_Mutation_p.V431L|NRG1_ENST00000539990.1_Missense_Mutation_p.V324L			Q02297	NRG1_HUMAN	neuregulin 1	481					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	p.V486L(2)|p.V486M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCTACTTCTCGTGACACCACC	0.582000													10	101					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155322527	155322527	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:155322527C>A	ENST00000368346.3	-	17	7990	c.7351G>T	c.(7351-7353)Gaa>Taa	p.E2451*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E2446*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2451					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCACAAATTTCTTTGAAGATC	0.398000													5	108					0.014758	0.0150053	1	1	0
AMPD2	271	broad.mit.edu	37	1	110172910	110172910	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:110172910C>T	ENST00000256578.3	+	16	2561	c.2201C>T	c.(2200-2202)cCg>cTg	p.P734L	AMPD2_ENST00000528667.1_Missense_Mutation_p.P734L|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000358729.4_Missense_Mutation_p.P659L|AMPD2_ENST00000528454.1_Missense_Mutation_p.P616L|AMPD2_ENST00000393688.3_Missense_Mutation_p.P615L|AMPD2_ENST00000342115.4_Missense_Mutation_p.P653L	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	734					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCATGTCTCCGCTCAGCAAC	0.637000													10	180					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126732243	126732243	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:126732243G>C	ENST00000274473.6	+	7	699	c.432G>C	c.(430-432)tgG>tgC	p.W144C	MEGF10_ENST00000508365.1_Missense_Mutation_p.W144C|MEGF10_ENST00000503335.2_Missense_Mutation_p.W144C|MEGF10_ENST00000418761.2_Missense_Mutation_p.W144C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	144	EGF-like 2.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTGATCACTGGGGTCCCCACT	0.602000													12	144					0	0	1	0	0
ACOT7	11332	broad.mit.edu	37	1	6354942	6354942	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:6354942G>A	ENST00000361521.4	-	7	1802	c.811C>T	c.(811-813)Cat>Tat	p.H271Y	ACOT7_ENST00000377845.3_Missense_Mutation_p.H251Y|ACOT7_ENST00000608083.1_Missense_Mutation_p.H239Y|ACOT7_ENST00000545482.1_Missense_Mutation_p.H166Y|ACOT7_ENST00000377855.2_Missense_Mutation_p.H281Y|ACOT7_ENST00000377842.3_Missense_Mutation_p.H230Y	NM_007274.3	NP_009205.3	O00154	BACH_HUMAN	acyl-CoA thioesterase 7	281	Acyl coenzyme A hydrolase 2.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity			kidney(1)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	16	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)		ATCTTGTCATGAAAATTAATG	0.537000													16	42					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266301	65266301	+	RNA	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:65266301C>A	ENST00000534336.1	+	0	1069					NR_002819.2																						CAGCTCAAATCTTTCCACACG	0.333000													7	122					0.0293803	0.0297452	1	1	0
FEM1C	56929	broad.mit.edu	37	5	114861288	114861288	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:114861288C>G	ENST00000274457.3	-	3	1132	c.571G>C	c.(571-573)Gaa>Caa	p.E191Q		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	191						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CTTCCAGATTCTGCACAATCA	0.358000													9	39					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104900516	104900516	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:104900516C>T	ENST00000533400.1	-	6	773	c.738G>A	c.(736-738)aaG>aaA	p.K246K	CASP1_ENST00000594519.1_Silent_p.K153K|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Silent_p.K225K|CASP1_ENST00000534497.1_Silent_p.K153K|CASP1_ENST00000527979.1_Silent_p.K209K|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000528974.1_Silent_p.K207K|CASP1_ENST00000525825.1_Silent_p.K225K|CASP1_ENST00000593315.1_Silent_p.K225K|CASP1_ENST00000446369.1_Silent_p.K153K|CASP1_ENST00000598974.1_Silent_p.K246K|CASP1_ENST00000526568.1_Silent_p.K153K|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000436863.3_Silent_p.K246K	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	246					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CAGAGTGTTTCTTCCCACAAA	0.473000													35	93					0	0	1	0	0
FXYD1	5348	broad.mit.edu	37	19	35632064	35632064	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:35632064C>T	ENST00000588081.1	+	3	181	c.123C>T	c.(121-123)ctC>ctT	p.L41L	FXYD1_ENST00000351325.4_Silent_p.L41L|FXYD1_ENST00000588607.1_Silent_p.L41L|CTD-2527I21.4_ENST00000592174.1_RNA|FXYD1_ENST00000588715.1_Silent_p.L41L|FXYD1_ENST00000589209.1_Silent_p.L41L|LGI4_ENST00000493050.1_Intron|FXYD1_ENST00000455515.2_Silent_p.L41L			O00168	PLM_HUMAN	FXYD domain containing ion transport regulator 1	41					muscle contraction	chloride channel complex|integral to plasma membrane	chloride channel activity			lung(3)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCGGAGGCCTCGTCATCGCCG	0.622000													5	83					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20534353	20534353	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:20534353C>T	ENST00000377252.4	+	13	2233	c.1392C>T	c.(1390-1392)gtC>gtT	p.V464V	PLXDC2_ENST00000377242.3_Silent_p.V415V|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCATCCTGGTCCTCATTGTAG	0.473000													13	153					0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61843454	61843454	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:61843454C>A	ENST00000225726.5	-	2	464	c.82G>T	c.(82-84)Gag>Tag	p.E28*	CCDC47_ENST00000582252.1_Nonsense_Mutation_p.E28*|CCDC47_ENST00000403162.3_Nonsense_Mutation_p.E28*	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	28						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						ATGTCCTCCTCATCCTCAAAA	0.418000													10	231					3.86212e-05	4.07451e-05	1	1	0
ZFP30	22835	broad.mit.edu	37	19	38126353	38126353	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:38126353G>C	ENST00000351218.2	-	6	1646	c.1089C>G	c.(1087-1089)ttC>ttG	p.F363L	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000514101.2_Missense_Mutation_p.F363L|ZFP30_ENST00000392144.1_Missense_Mutation_p.F363L	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCACGACTGAAAGTCTTCC	0.433000													6	100					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821675	5821675	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:5821675G>A	ENST00000381095.3	-	5	1671	c.1044C>T	c.(1042-1044)gtC>gtT	p.V348V	NLGN4X_ENST00000381092.1_Silent_p.V348V|NLGN4X_ENST00000381093.2_Silent_p.V368V|NLGN4X_ENST00000275857.6_Silent_p.V348V|NLGN4X_ENST00000538097.1_Silent_p.V348V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	348					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGTCTGGGATGACGTCGCCGT	0.587000													7	111					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58095781	58095781	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:58095781G>A	ENST00000357272.4	+	16	2533	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	FLNB_ENST00000490882.1_Missense_Mutation_p.E790K|FLNB_ENST00000295956.4_Missense_Mutation_p.E790K|FLNB_ENST00000419752.2_Missense_Mutation_p.E621K|FLNB_ENST00000493452.1_Missense_Mutation_p.E621K|FLNB_ENST00000348383.5_Missense_Mutation_p.E790K|FLNB_ENST00000358537.3_Missense_Mutation_p.E790K|FLNB_ENST00000429972.2_Missense_Mutation_p.E790K			O75369	FLNB_HUMAN	filamin B, beta	790					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTGTTAAGTGAAGATGAGGA	0.448000													29	180					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258645	9258645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:9258645C>T	ENST00000262126.4	+	9	5620	c.5380C>T	c.(5380-5382)Cag>Tag	p.Q1794*	ANKRD12_ENST00000400020.3_Nonsense_Mutation_p.Q1771*|ANKRD12_ENST00000383440.2_Nonsense_Mutation_p.Q1771*	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				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						ACGTGTACCTCAGCCTGTGCA	0.428000													5	137					0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55399398	55399398	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:55399398C>G	ENST00000355524.3	+	4	396	c.386C>G	c.(385-387)tCt>tGt	p.S129C	FCAR_ENST00000359272.4_Missense_Mutation_p.S117C|FCAR_ENST00000469767.1_Missense_Mutation_p.S129C|FCAR_ENST00000391723.3_Missense_Mutation_p.S117C|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000353758.4_Missense_Mutation_p.S20C|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000391724.3_Missense_Mutation_p.S117C|FCAR_ENST00000391725.3_Missense_Mutation_p.S129C	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	129					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCCTTCCTCTCTGCAGATCGG	0.428000													3	53					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40076883	40076883	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:40076883G>C	ENST00000324616.5	+	8	1311	c.1157G>C	c.(1156-1158)aGa>aCa	p.R386T	C12orf40_ENST00000398716.1_Missense_Mutation_p.R309T|C12orf40_ENST00000405531.3_Missense_Mutation_p.R386T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	386										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AAAAATGAAAGAAATGATCTT	0.313000													3	53					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18348741	18348741	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:18348741G>C	ENST00000441493.2	-	18	2818	c.2466C>G	c.(2464-2466)ctC>ctG	p.L822L	MICAL3_ENST00000414725.2_Silent_p.L850L|MICAL3_ENST00000383094.3_Silent_p.L822L|MICAL3_ENST00000400561.2_Silent_p.L822L|MICAL3_ENST00000429452.1_Silent_p.L946L|MICAL3_ENST00000444520.1_Silent_p.L822L|MICAL3_ENST00000585038.1_Silent_p.L946L|MICAL3_ENST00000207726.7_Silent_p.L850L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	822	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CGTAGCCAGAGAGTCGATAGC	0.562000													3	68					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96064362	96064362	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:96064362G>C	ENST00000371380.3	+	24	5817	c.5582G>C	c.(5581-5583)aGa>aCa	p.R1861T	PLCE1_ENST00000260766.3_Missense_Mutation_p.R1861T|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1553T|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1553T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		C2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCACTAGAAAGAGATCTGGAC	0.443000													5	35					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42811651	42811651	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:42811651G>C	ENST00000398600.2	+	10	1492	c.467G>C	c.(466-468)gGa>gCa	p.G156A	MX1_ENST00000455164.2_Missense_Mutation_p.G156A|MX1_ENST00000288383.6_Missense_Mutation_p.G133A|MX1_ENST00000398598.3_Missense_Mutation_p.G156A	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	156					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAAGGAATGGGAATCAGTCAT	0.493000													12	139					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19775337	19775337	+	Silent	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:19775337T>C	ENST00000264203.3	-	2	565	c.72A>G	c.(70-72)gaA>gaG	p.E24E	CAPZB_ENST00000264202.6_Intron|CAPZB_ENST00000401084.2_Intron|CAPZB_ENST00000433834.1_Intron|CAPZB_ENST00000482808.1_Intron|CAPZB_ENST00000375142.1_Intron	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	0					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CCTTTCTAGGTTCTGGGTCAC	0.557000													14	31					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909104	94909104	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:94909104C>T	ENST00000334708.3	-	5	1172	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	370					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCCCGGCCTCGGTCCCCTTC	0.572000													4	15					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1342523	1342523	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:1342523C>T	ENST00000482352.1	-	1	147	c.75G>A	c.(73-75)ctG>ctA	p.L25L	MRPL20_ENST00000344843.7_Silent_p.L25L			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	25							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGGCGTGCTTCAGCACCTCCT	0.736000													10	46					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	133984843	133984843	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:133984843C>T	ENST00000398844.2	+	1	365	c.77C>T	c.(76-78)tCg>tTg	p.S26L	SEC24A_ENST00000322887.4_Missense_Mutation_p.S26L|SAR1B_ENST00000507419.1_5'UTR	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	26					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCTTGGCCTCGGGGTCTCCC	0.687000													16	18					0	0	1	0	0
FGD3	89846	broad.mit.edu	37	9	95738561	95738561	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:95738561C>G	ENST00000375482.3	+	3	519	c.23C>G	c.(22-24)tCa>tGa	p.S8*	FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Nonsense_Mutation_p.S8*|FGD3_ENST00000416701.2_Nonsense_Mutation_p.S8*	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	8					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGGGGTCCTCAACCCCTCCA	0.627000													4	19					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96756086	96756086	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:96756086G>C	ENST00000359933.4	-	41	6806	c.5913C>G	c.(5911-5913)ccC>ccG	p.P1971P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1971										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGGTCTTCTTGGGCTCGATAG	0.478000													6	79					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94858814	94858814	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:94858814C>G	ENST00000357742.4	+	3	585	c.585C>G	c.(583-585)ctC>ctG	p.L195L	MCTP2_ENST00000543482.1_Silent_p.L195L|MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Silent_p.L195L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	195	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTGCGTACCTCCTCACCATAC	0.547000													5	18					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38188718	38188718	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:38188718C>G	ENST00000373048.4	-	10	1954	c.1955G>C	c.(1954-1956)gGa>gCa	p.G652A	EPHA10_ENST00000330210.7_Missense_Mutation_p.G147A|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.G652A|EPHA10_ENST00000540011.1_Missense_Mutation_p.G147A	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	652	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTGCCTCCTCCAAGGCTCCT	0.612000													7	186					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160150149	160150149	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:160150149G>C	ENST00000357388.3	+	22	3827	c.3376G>C	c.(3376-3378)Gat>Cat	p.D1126H	SMC4_ENST00000360111.2_Missense_Mutation_p.D1068H|SMC4_ENST00000462787.1_Missense_Mutation_p.D1068H|SMC4_ENST00000469762.1_Missense_Mutation_p.D1101H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.D1126H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1126					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGCATATGAAGATCTTCGGAA	0.338000													14	70					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821857	72821857	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:72821857C>G	ENST00000268489.5	-	10	10990	c.10318G>C	c.(10318-10320)Gaa>Caa	p.E3440Q	ZFHX3_ENST00000397992.5_Missense_Mutation_p.E2526Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3440					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTGGCTCTTCAGGGAGTTTC	0.567000													16	102					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77326035	77326035	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:77326035C>G	ENST00000334955.8	+	1	276	c.249C>G	c.(247-249)ccC>ccG	p.P83P		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like		Ser-rich.					nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGCAGCCCCGCGTCTTGGA	0.662000													33	25					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526064	7526064	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:7526064G>A	ENST00000313599.3	-	14	3639	c.3582C>T	c.(3580-3582)ctC>ctT	p.L1194L	CD163L1_ENST00000396630.1_Silent_p.L1194L|CD163L1_ENST00000416109.2_Silent_p.L1204L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1194	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATAAAGGGGCGAGGCTGACAA	0.567000													51	139					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95033891	95033891	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:95033891G>T	ENST00000375643.3	-	11	1303	c.1037C>A	c.(1036-1038)tCa>tAa	p.S346*	IARS_ENST00000447699.2_Nonsense_Mutation_p.S236*|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Nonsense_Mutation_p.S346*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	346					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AACAGGGAGTGAGTCTTTCCG	0.448000													29	51					7.01153e-11	7.73165e-11	1	1	0
SPPL2C	162540	broad.mit.edu	37	17	43923165	43923165	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:43923165C>G	ENST00000329196.5	+	1	910	c.893C>G	c.(892-894)tCa>tGa	p.S298*	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	298						integral to membrane	aspartic-type endopeptidase activity										AGCTGCCTGTCACCCCTGGTG	0.612000													21	160					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900465	76900465	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:76900465C>A	ENST00000409709.3	+	28	3852	c.3580C>A	c.(3580-3582)Ctc>Atc	p.L1194I	MYO7A_ENST00000409619.2_Missense_Mutation_p.L1183I|MYO7A_ENST00000458637.2_Missense_Mutation_p.L1194I	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1194	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGCTGGATTCTCGTGTCTCT	0.622000													7	81					2.0095e-06	2.16108e-06	1	1	0
HDAC6	10013	broad.mit.edu	37	X	48674404	48674404	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:48674404C>T	ENST00000334136.5	+	17	1616	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	HDAC6_ENST00000444343.2_Missense_Mutation_p.R494C|HDAC6_ENST00000376619.2_Missense_Mutation_p.R480C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	480					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GCTACAGTCTCGCACAGGGCT	0.562000													40	18					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8158940	8158940	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:8158940C>G	ENST00000343202.4	-	4	571	c.506G>C	c.(505-507)gGa>gCa	p.G169A	RIC3_ENST00000425599.2_Intron|RIC3_ENST00000309737.6_Missense_Mutation_p.G169A|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.G120A	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	169						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ACCATTAGGTCCCACTCTGTT	0.418000													29	92					0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32378955	32378955	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:32378955C>G	ENST00000375200.1	+	15	2562	c.2197C>G	c.(2197-2199)Ctc>Gtc	p.L733V	RP4-553F4.6_ENST00000439444.1_RNA|ZNF341_ENST00000342427.2_Missense_Mutation_p.L726V|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCGCTGTCGTCTCGGCCCCCA	0.662000													15	90					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27958166	27958166	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:27958166G>C	ENST00000269033.3	-	15	4116	c.3965C>G	c.(3964-3966)tCt>tGt	p.S1322C	SSH2_ENST00000540801.1_Missense_Mutation_p.S1349C|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1322					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTACAAAAGACTTGGTGGG	0.522000													11	97					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57958340	57958340	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:57958340C>T	ENST00000325752.3	-	4	729	c.452G>A	c.(451-453)gGa>gAa	p.G151E	TUBD1_ENST00000592426.1_Missense_Mutation_p.G151E|TUBD1_ENST00000340993.6_Missense_Mutation_p.G151E|TUBD1_ENST00000394239.3_Missense_Mutation_p.G151E|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.G151E|TUBD1_ENST00000591611.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	151					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AACGAAAGCTCCTAATCCTGA	0.383000													18	285					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9068499	9068499	+	Missense_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9068499T>C	ENST00000397910.4	-	3	19150	c.18947A>G	c.(18946-18948)tAt>tGt	p.Y6316C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6318	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACAGTAAAATAGAATTCATT	0.463000													10	107					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71650606	71650606	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:71650606G>A	ENST00000409544.1	+	22	4592	c.3962G>A	c.(3961-3963)aGa>aAa	p.R1321K	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1321K|ZNF638_ENST00000409407.1_Missense_Mutation_p.R261K	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1321	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AAGGAAACCAGAATGGATCTT	0.393000													5	57					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101869869	101869869	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:101869869G>C	ENST00000289382.3	+	1	606	c.443G>C	c.(442-444)aGc>aCc	p.S148T		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		TTCGCCGCCAGCTTCGCGCAC	0.736000													5	19					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42234641	42234641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:42234641G>T	ENST00000327628.5	+	8	1244	c.844G>T	c.(844-846)Gag>Tag	p.E282*	TRAK1_ENST00000341421.3_Nonsense_Mutation_p.E224*|TRAK1_ENST00000449246.1_Nonsense_Mutation_p.E208*|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Nonsense_Mutation_p.E224*	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	282	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCGCCAGCAAGAGGAGATCAC	0.468000													8	76					6.5536e-12	7.26353e-12	1	1	0
QRICH2	84074	broad.mit.edu	37	17	74288722	74288722	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:74288722C>T	ENST00000262765.5	-	4	1767	c.1588G>A	c.(1588-1590)Gat>Aat	p.D530N		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	530	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCAATCTGATCTGCACCAGGT	0.537000													51	95					0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76349075	76349075	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:76349075G>T	ENST00000298832.9	+	30	3775	c.3570G>T	c.(3568-3570)atG>atT	p.M1190I	TTLL5_ENST00000554510.1_Missense_Mutation_p.M699I|TTLL5_ENST00000556893.1_Missense_Mutation_p.M741I|TTLL5_ENST00000557636.1_Missense_Mutation_p.M1205I	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1190					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TATGGACAATGAATAATGGTG	0.443000													10	65					9.70103e-10	1.06479e-09	1	1	0
INSR	3643	broad.mit.edu	37	19	7142849	7142849	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7142849G>A	ENST00000341500.5	-	11	2523	c.2484C>T	c.(2482-2484)gtC>gtT	p.V828V	INSR_ENST00000302850.5_Silent_p.V840V	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	840	Fibronectin type-III 2.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCTCGCACTGACGTAGGCTG	0.602000													5	53					0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19153748	19153748	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:19153748G>C	ENST00000269214.5	-	4	1994	c.1057C>G	c.(1057-1059)Cag>Gag	p.Q353E		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	353					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GTTTCCTTCTGATGAAGTATT	0.348000													17	73					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36716266	36716266	+	Splice_Site	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:36716266C>T	ENST00000216181.5	-	9	1241	c.1011G>A	c.(1009-1011)atG>atA	p.M337I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	337	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCCTGTACCCATTTGCTCCT	0.627000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				18	66					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63990794	63990794	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:63990794G>C	ENST00000279227.5	+	15	1929	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	FERMT3_ENST00000345728.5_Missense_Mutation_p.E608Q	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	612					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGTGGCCATCGAGTTTGATGA	0.592000													27	155					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3658957	3658957	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3658957C>G	ENST00000294008.3	-	2	649	c.9G>C	c.(7-9)ctG>ctC	p.L3L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	3	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CATTCACACTCAGTTTCATTA	0.428000								Direct reversal of damage					7	27					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3298957	3298957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:3298957G>A	ENST00000252032.9	-	17	1514	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	C20orf194_ENST00000453730.2_Nonsense_Mutation_p.Q221*	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	483										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ACTAAGATCTGAGAAGTCAAA	0.348000													11	91					0	0	1	0	0
DHRS2	10202	broad.mit.edu	37	14	24113723	24113723	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:24113723G>A	ENST00000250383.6	+	7	1122	c.646G>A	c.(646-648)Gga>Aga	p.G216R	DHRS2_ENST00000344777.7_Missense_Mutation_p.G216R	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	194					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CGTGGTTCCAGGAATTATCAA	0.527000													10	76					0	0	1	0	0
DNAJB9	4189	broad.mit.edu	37	7	108213698	108213698	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:108213698G>A	ENST00000249356.3	+	3	1119	c.573G>A	c.(571-573)caG>caA	p.Q191Q	DNAJB9_ENST00000465725.1_Intron	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	191					ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						ATACAGTACAGACTGAAAATA	0.368000													7	96					0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122396425	122396425	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:122396425G>T	ENST00000288912.4	+	12	2832	c.1978G>T	c.(1978-1980)Gaa>Taa	p.E660*	WDR66_ENST00000397454.2_Nonsense_Mutation_p.E660*	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	660							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CTACAACCCCGAAGGTATTTT	0.488000													73	175					6.01781e-45	6.82628e-45	1	1	0
NCF1B	654816	broad.mit.edu	37	7	72640066	72640066	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:72640066C>G	ENST00000423083.1	+	0	158					NR_003186.1																						CTGATGACCTCAAGCTCCCCA	0.572000													7	18					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117706942	117706942	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:117706942G>C	ENST00000368508.3	-	15	2406	c.2208C>G	c.(2206-2208)atC>atG	p.I736M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I731M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	736					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.I736I(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATTCTCTGAGATATCCGTCC	0.463000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								18	33					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60088284	60088284	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:60088284G>C	ENST00000397786.2	-	9	1670	c.1594C>G	c.(1594-1596)Caa>Gaa	p.Q532E		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	532					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGGGTGGTTGAGGTGAATTT	0.438000													13	218					0	0	1	0	0
TOM1L2	146691	broad.mit.edu	37	17	17797118	17797118	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:17797118C>T	ENST00000379504.3	-	4	306	c.223G>A	c.(223-225)Gag>Aag	p.E75K	TOM1L2_ENST00000542206.1_Intron|TOM1L2_ENST00000318094.10_Missense_Mutation_p.E75K|TOM1L2_ENST00000540946.1_Missense_Mutation_p.E75K|TOM1L2_ENST00000395739.4_Missense_Mutation_p.E75K|TOM1L2_ENST00000535933.1_Missense_Mutation_p.E75K|TOM1L2_ENST00000581396.1_Intron	NM_001082968.1	NP_001076437.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	75	VHS.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					ACACATGTCTCCAGCACCTGA	0.532000													8	47					0	0	1	0	0
OR8G5	219865	broad.mit.edu	37	11	124135477	124135477	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:124135477C>G	ENST00000524943.2	+	1	755	c.755C>G	c.(754-756)tCt>tGt	p.S252C	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5														Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		ATCCTCAGCTCTTACATCTTC	0.458000													17	118					0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1273648	1273648	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:1273648C>G	ENST00000378888.5	-	13	1792		c.e13+1		DVL1_ENST00000378891.5_Splice_Site			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1						canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCCCACTCACTGCTGCAGAG	0.662000													4	36					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851877	47851877	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:47851877C>G	ENST00000359568.5	+	38	8606	c.8499C>G	c.(8497-8499)ctC>ctG	p.L2833L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2833					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGAGGCGCTCAGGAGAGAGA	0.567000													4	66					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31048095	31048095	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:31048095C>G	ENST00000318217.5	-	15	2163	c.1859G>C	c.(1858-1860)aGa>aCa	p.R620T	MYO1D_ENST00000394649.4_Missense_Mutation_p.R532T|MYO1D_ENST00000579584.1_Missense_Mutation_p.R620T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	620	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCGACGCACTCTCACATTTTC	0.468000													17	188					0	0	1	0	0
RPLP1	6176	broad.mit.edu	37	15	69746006	69746006	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:69746006C>G	ENST00000260379.6	+	2	258	c.93C>G	c.(91-93)ctC>ctG	p.L31L	RPLP1_ENST00000357790.5_Intron|RPLP1_ENST00000560274.1_Intron	NM_001003.2	NP_000994.1	P05386	RLA1_HUMAN	ribosomal protein, large, P1	31					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			ovary(1)	1						TCAATGCCCTCATTAAAGCAG	0.418000													6	60					0	0	1	0	0
HRH1	3269	broad.mit.edu	37	3	11301350	11301350	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:11301350C>G	ENST00000397056.1	+	3	818	c.627C>G	c.(625-627)ttC>ttG	p.F209L	HRH1_ENST00000431010.2_Missense_Mutation_p.F209L|HRH1_ENST00000438284.2_Missense_Mutation_p.F209L	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	209					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TGCTCTGGTTCTATGCCAAGA	0.507000													10	165					0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40887028	40887028	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:40887028C>G	ENST00000291823.2	-	3	1154	c.870G>C	c.(868-870)caG>caC	p.Q290H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	290	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGTCTCAATCTGGTCCAACG	0.627000													6	110					0	0	1	0	0
UBE2N	7334	broad.mit.edu	37	12	93805045	93805045	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:93805045G>A	ENST00000318066.2	-	2	438	c.61C>T	c.(61-63)Cct>Tct	p.P21S	UBE2N_ENST00000552442.1_Missense_Mutation_p.P21S|UBE2N_ENST00000549833.1_5'UTR|UBE2N_ENST00000550657.1_Missense_Mutation_p.P21S	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	21					DNA double-strand break processing|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of DNA repair|positive regulation of histone modification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-MMS2 complex|UBC13-UEV1A complex|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						TTGATGCCAGGAACTGGTTCT	0.438000								Direct reversal of damage;Rad6 pathway					9	78					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172560175	172560175	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:172560175G>T	ENST00000367723.4	+	18	3454	c.3330G>T	c.(3328-3330)gtG>gtT	p.V1110V	SUCO_ENST00000608151.1_Silent_p.V1111V|SUCO_ENST00000263688.3_Silent_p.V959V|SUCO_ENST00000610051.1_Silent_p.V588V	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		AAACAATCGTGAAACTTCAGA	0.333000													23	94					4.26978e-12	4.73432e-12	1	1	0
FZD7	8324	broad.mit.edu	37	2	202900975	202900975	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:202900975G>A	ENST00000286201.1	+	1	1666	c.1605G>A	c.(1603-1605)ctG>ctA	p.L535L		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	535					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						TCAAGTACCTGATGACCATGA	0.617000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	110					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91630612	91630612	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:91630612G>C	ENST00000359028.2	+	9	1642	c.1417G>C	c.(1417-1419)Gag>Cag	p.E473Q	AKAP9_ENST00000356239.3_Missense_Mutation_p.E461Q|AKAP9_ENST00000358100.2_Missense_Mutation_p.E473Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	473	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.E473Q(1)|p.E461Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGCACAGATGGAGGAAATGAA	0.378000			T	BRAF	papillary thyroid								4	119					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2028584	2028584	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:2028584C>G	ENST00000568546.1	+	22	2453	c.2325C>G	c.(2323-2325)ctC>ctG	p.L775L		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	775					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCAGGACCCTCCAGGCCGCCG	0.672000													11	79					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171309	77171309	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:77171309C>T	ENST00000253506.5	+	2	1403	c.1034C>T	c.(1033-1035)tCa>tTa	p.S345L	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S345L|NFATC1_ENST00000542384.1_Missense_Mutation_p.S345L|NFATC1_ENST00000591814.1_Missense_Mutation_p.S345L|NFATC1_ENST00000329101.4_Missense_Mutation_p.S332L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000592223.1_Missense_Mutation_p.S332L|NFATC1_ENST00000427363.2_Missense_Mutation_p.S345L|NFATC1_ENST00000318065.5_Missense_Mutation_p.S332L|NFATC1_ENST00000586434.1_Missense_Mutation_p.S332L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	345					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGCCGCCCTCAGTGGCGCTC	0.687000													8	51					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29693775	29693775	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:29693775C>T	ENST00000261593.3	+	4	802	c.344C>T	c.(343-345)tCt>tTt	p.S115F	RNF138_ENST00000585103.1_3'UTR|RNF138_ENST00000257190.5_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	115					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TATGGTGTTTCTTCTATCATT	0.279000													7	13					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123159715	123159715	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:123159715G>C	ENST00000371160.1	+	4	360	c.70G>C	c.(70-72)Gac>Cac	p.D24H	STAG2_ENST00000218089.9_Missense_Mutation_p.D24H|STAG2_ENST00000371144.3_Missense_Mutation_p.D24H|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Missense_Mutation_p.D24H|STAG2_ENST00000371157.3_Missense_Mutation_p.D24H	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	24					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTTTCTTCTGACACAGATTT	0.308000													31	52					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7406993	7406993	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:7406993C>G	ENST00000322644.6	+	19	3522	c.3123C>G	c.(3121-3123)ttC>ttG	p.F1041L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1041					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCTGCTCTTCAACATCCACC	0.567000													5	31					0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177733	70177733	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:70177733G>C	ENST00000377420.1	-	1	1082	c.251C>G	c.(250-252)tCa>tGa	p.S84*		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	84					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GCCAAACTCTGAGGGGTCACT	0.692000													29	405					0	0	1	0	0
C21orf58	54058	broad.mit.edu	37	21	47738075	47738075	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:47738075C>T	ENST00000291691.7	-	2	1296	c.160G>A	c.(160-162)Gag>Aag	p.E54K	C21orf58_ENST00000397685.4_5'UTR|C21orf58_ENST00000397679.1_5'UTR|C21orf58_ENST00000397683.1_5'UTR|C21orf58_ENST00000397680.1_5'UTR|C21orf58_ENST00000397682.3_5'UTR	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	54										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		AAGAACTGCTCAGCAGGAGCC	0.632000													22	105					0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12856254	12856254	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:12856254C>G	ENST00000378847.3	+	7	1039	c.702C>G	c.(700-702)ctC>ctG	p.L234L	CAMK1D_ENST00000378845.1_Silent_p.L234L	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	234	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		AGCAGATCCTCAAGGCGGAAT	0.512000													5	76					0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104133356	104133356	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:104133356C>G	ENST00000259407.2	-	2	439	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	BAAT_ENST00000395051.3_Missense_Mutation_p.E111Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	111					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	ACTATTAACTCTAAGTCATAA	0.423000													6	79					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38862514	38862514	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:38862514C>G	ENST00000339659.4	+	6	2145	c.675C>G	c.(673-675)ctC>ctG	p.L225L	DYRK1A_ENST00000455387.2_Silent_p.L6L|DYRK1A_ENST00000398960.2_Silent_p.L234L|DYRK1A_ENST00000451934.1_Silent_p.L234L|DYRK1A_ENST00000321219.8_Silent_p.L234L|DYRK1A_ENST00000398956.2_Silent_p.L234L|DYRK1A_ENST00000338785.3_Silent_p.L234L	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAACCATCTCTGTTTAGTTT	0.363000													9	36					0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27902476	27902476	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:27902476C>T	ENST00000225394.3	-	18	2087	c.1839G>A	c.(1837-1839)aaG>aaA	p.K613K	GIT1_ENST00000579937.1_Silent_p.K613K|GIT1_ENST00000581348.1_Silent_p.K599K|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Silent_p.K622K	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	613					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTAGAAACCTCTTCCCTTCCA	0.547000													17	148					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238525	48238525	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:48238525C>G	ENST00000309562.2	+	1	182	c.164C>G	c.(163-165)tCt>tGt	p.S55C		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTCTGGATTCTCCCATGTAC	0.483000													6	132					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170351446	170351446	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:170351446G>C	ENST00000523189.1	+	12	1524	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	454					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATGTGAATATGAAAAGACATG	0.423000			T	TRD@	ALL								16	15					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167891886	167891886	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:167891886G>C	ENST00000265293.4	+	21	3571	c.3069G>C	c.(3067-3069)aaG>aaC	p.K1023N	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.K1029N	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1023	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AACAAGCCAAGAGCCACGGGG	0.597000													15	67					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74166461	74166461	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:74166461C>G	ENST00000324896.4	+	28	2905	c.2516C>G	c.(2515-2517)tCa>tGa	p.S839*	GTF2I_ENST00000416070.1_Nonsense_Mutation_p.S798*|GTF2I_ENST00000353920.4_Nonsense_Mutation_p.S819*|GTF2I_ENST00000346152.4_Nonsense_Mutation_p.S818*	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	839					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ACTACTGCATCAGGTGTTGAA	0.368000													15	27					0	0	1	0	0
WEE1	7465	broad.mit.edu	37	11	9598794	9598794	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:9598794G>T	ENST00000299613.6	+	5	1238	c.483G>T	c.(481-483)caG>caT	p.Q161H	WEE1_ENST00000450114.2_Missense_Mutation_p.Q375H	NM_001143976.1	NP_001137448.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	375					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		TGCTTATACAGAATGAATATT	0.363000													23	83					3.5997e-14	4.02555e-14	1	1	0
ZC3H6	376940	broad.mit.edu	37	2	113088812	113088812	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:113088812G>C	ENST00000409871.1	+	12	2718	c.2317G>C	c.(2317-2319)Gag>Cag	p.E773Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.E773Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	773							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAGCCTTCTGAGTCTGCCCC	0.468000													14	64					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77765949	77765949	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:77765949C>G	ENST00000407578.2	-	28	4202		c.e28-1		MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATATTTTTCTCTGAGAAAAAA	0.388000													10	26					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756053	71756053	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:71756053G>T	ENST00000318442.5	-	2	1761	c.1271C>A	c.(1270-1272)tCa>tAa	p.S424*		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCACACTCTGAGCAGATGTA	0.607000													7	29					5.18039e-06	5.54602e-06	1	1	0
CTBS	1486	broad.mit.edu	37	1	85020762	85020762	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:85020762C>G	ENST00000370630.5	-	7	1126	c.1078G>C	c.(1078-1080)Gac>Cac	p.D360H	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-							lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CCAGAGTAGTCAAGACAGTTT	0.393000													11	47					0	0	1	0	0
SLC35D3	340146	broad.mit.edu	37	6	137245754	137245754	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:137245754G>C	ENST00000331858.4	+	2	1336	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	391					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		TGCTTACCTCGAGGTATGGAG	0.532000													8	43					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35616883	35616883	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:35616883G>C	ENST00000287272.2	+	13	2022	c.2002G>C	c.(2002-2004)Gaa>Caa	p.E668Q	UNC5D_ENST00000404895.2_Missense_Mutation_p.E737Q|UNC5D_ENST00000420357.1_Missense_Mutation_p.E670Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.E732Q|UNC5D_ENST00000416672.1_Missense_Mutation_p.E742Q|UNC5D_ENST00000449677.1_Missense_Mutation_p.E313Q			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	737					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GCTCCTGGAAGAACCAAAATT	0.388000													20	101					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127466840	127466840	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:127466840C>A	ENST00000262461.2	+	5	1319	c.1130C>A	c.(1129-1131)gCt>gAt	p.A377D	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A377D	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	377					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTTGCCAACGCTGTTGCAGTT	0.393000													11	89					7.03913e-09	7.69702e-09	1	1	0
IKZF2	22807	broad.mit.edu	37	2	213921675	213921675	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:213921675G>C	ENST00000457361.1	-	4	456	c.288C>G	c.(286-288)gtC>gtG	p.V96V	IKZF2_ENST00000342002.2_Silent_p.V102V|IKZF2_ENST00000413091.3_Silent_p.V96V|IKZF2_ENST00000451136.2_Silent_p.V96V|IKZF2_ENST00000374319.4_Silent_p.V96V|IKZF2_ENST00000421754.2_Silent_p.V96V|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Silent_p.V96V	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V96V(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GAAGCTCCTGGACTTTCCTGT	0.532000													3	46					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43280223	43280223	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:43280223C>A	ENST00000512796.1	+	4	2202	c.703C>A	c.(703-705)Ccc>Acc	p.P235T	NIM1_ENST00000326035.2_Missense_Mutation_p.P235T			Q8IY84	NIM1_HUMAN		235	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										TGGGTCTCCTCCCTACGCTGC	0.488000													13	124					3.87621e-19	4.35906e-19	1	1	0
GPR98	84059	broad.mit.edu	37	5	89910661	89910661	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:89910661C>T	ENST00000405460.2	+	2	128	c.32C>T	c.(31-33)tCt>tTt	p.S11F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	11					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGGATGCCCTCTGCATCTTTA	0.264000													4	7					0	0	1	0	0
ANXA9	8416	broad.mit.edu	37	1	150967131	150967131	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150967131G>C	ENST00000368947.4	+	13	1407	c.931G>C	c.(931-933)Gag>Cag	p.E311Q		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	311					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATCAGAGCTGAGTTCAGGAA	0.488000													66	226					0	0	1	0	0
C2orf47	79568	broad.mit.edu	37	2	200820957	200820957	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:200820957G>C	ENST00000295079.2	+	2	758	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	C2orf47_ENST00000392290.1_Missense_Mutation_p.E146Q	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	146						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						AGAGTTCTCCGAGGGAGCGAA	0.468000													4	98					0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106804621	106804621	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:106804621C>G	ENST00000228347.4	+	12	1206	c.984C>G	c.(982-984)ttC>ttG	p.F328L	POLR3B_ENST00000539066.1_Missense_Mutation_p.F270L|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	328					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AATTCAATTTCCGAGCCAAAT	0.343000													5	32					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545662	234545662	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:234545662C>G	ENST00000344644.5	+	1	563	c.494C>G	c.(493-495)tCt>tGt	p.S165C	UGT1A10_ENST00000373445.1_Missense_Mutation_p.S165C|UGT1A1_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCCTCCCCTCTGTGGTCTTC	0.428000													30	74					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34038865	34038865	+	Silent	SNP	G	G	C	rs115658799	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:34038865G>C	ENST00000382499.2	-	16	1946	c.1947C>G	c.(1945-1947)ctC>ctG	p.L649L	SYNJ1_ENST00000433931.2_Silent_p.L649L|SYNJ1_ENST00000382491.3_Silent_p.L605L|SYNJ1_ENST00000322229.7_Silent_p.L610L|SYNJ1_ENST00000357345.3_Silent_p.L610L	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	610	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CTACAGCCCAGAGCTTCTGAT	0.353000													7	133					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8143718	8143718	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:8143718C>T	ENST00000332175.8	+	14	3278	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	PTPRM_ENST00000400053.4_Silent_p.I685I|PTPRM_ENST00000444013.1_Silent_p.I534I|PTPRM_ENST00000400060.4_Silent_p.I747I|PTPRM_ENST00000580170.1_Silent_p.I747I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	747					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGAGTCATCGCGGGCATCT	0.438000													33	209					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27338941	27338941	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:27338941C>A	ENST00000289166.5	-	1	386	c.221G>T	c.(220-222)gGc>gTc	p.G74V		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	74										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGGGAAGTTGCCGCGCCCGTG	0.662000													3	18					0.115264	0.116154	1	1	0
SHC1	6464	broad.mit.edu	37	1	154942839	154942839	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:154942839G>A	ENST00000448116.2	-	1	384	c.164C>T	c.(163-165)cCc>cTc	p.P55L	SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.P55L|SHC1_ENST00000368450.1_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	55					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGGTAGTGGGACTATCGTC	0.677000													9	95					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86203583	86203583	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:86203583C>G	ENST00000257770.3	+	9	1635	c.1586C>G	c.(1585-1587)tCt>tGt	p.S529C	NT5E_ENST00000369651.3_Missense_Mutation_p.S479C	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	529					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	AACGTGGTTTCTACATATATC	0.323000													4	34					0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34153758	34153758	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:34153758C>G	ENST00000257829.3	+	15	1813	c.1607C>G	c.(1606-1608)tCt>tGt	p.S536C	NAT10_ENST00000531159.2_Missense_Mutation_p.S464C|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	536						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				TACGTGGCTTCTCACTACAAG	0.463000													17	154					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327170	16327170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:16327170G>A	ENST00000244769.4	-	8	2308	c.1372C>T	c.(1372-1374)Caa>Taa	p.Q458*	ATXN1_ENST00000436367.1_Nonsense_Mutation_p.Q458*	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	458					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACAGGGGGTTGAGTCCCTGCG	0.652000													47	140					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671680	25671680	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:25671680C>T	ENST00000281589.3	+	1	1381	c.1344C>T	c.(1342-1344)atC>atT	p.I448I		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	448					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAGTGCTATCCGCCCAGGTG	0.502000													11	192					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2434813	2434813	+	Missense_Mutation	SNP	G	G	C	rs147782907		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:2434813G>C	ENST00000452833.1	-	13	1910	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L	TRPM5_ENST00000155858.6_Missense_Mutation_p.F632L|TRPM5_ENST00000533060.1_Missense_Mutation_p.F632L|TRPM5_ENST00000528453.1_Missense_Mutation_p.F632L			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	632						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TCCTGGTCAGGAAGGCCTGAG	0.652000													3	22					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78216252	78216252	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:78216252G>T	ENST00000171757.2	+	4	515	c.235G>T	c.(235-237)Gct>Tct	p.A79S	P2RY10_ENST00000544091.1_Missense_Mutation_p.A79S|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	79						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCTCTCTGTGGCTGACCTTGC	0.478000													14	167					9.31168e-06	9.9444e-06	1	1	0
KRT8	3856	broad.mit.edu	37	12	53298455	53298455	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53298455G>T	ENST00000552551.1	-	2	743	c.311C>A	c.(310-312)tCc>tAc	p.S104Y	KRT8_ENST00000293308.6_Missense_Mutation_p.S104Y|KRT8_ENST00000552150.1_Missense_Mutation_p.S132Y|KRT8_ENST00000546897.1_Missense_Mutation_p.S104Y			P05787	K2C8_HUMAN	keratin 8	104	Coil 1A.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTATGAAGGAGGCAAACTT	0.622000													37	100					2.47872e-24	2.79714e-24	1	1	0
LRIT1	26103	broad.mit.edu	37	10	85993841	85993841	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:85993841G>C	ENST00000372105.3	-	3	904	c.883C>G	c.(883-885)Ctt>Gtt	p.L295V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	295	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTACCATTAAGGGGCCTGCCA	0.597000													4	45					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7635969	7635969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:7635969C>T	ENST00000340080.4	+	11	2699	c.2278C>T	c.(2278-2280)Cag>Tag	p.Q760*	MIOS_ENST00000405785.1_Nonsense_Mutation_p.Q760*	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	760										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGTTTTAGTCAGTATGGTGT	0.443000													5	117					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150255784	150255784	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150255784G>A	ENST00000290363.5	+	1	556	c.107G>A	c.(106-108)aGg>aAg	p.R36K	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Missense_Mutation_p.R36K|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	36										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATAGTGAGAGGGAGGACAAG	0.587000													7	188					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675924	77675924	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:77675924C>T	ENST00000296043.6	+	7	5241	c.4288C>T	c.(4288-4290)Cga>Tga	p.R1430*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1430					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ACCTCCTTCTCGAGCAAAGTG	0.587000													90	15					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21304748	21304748	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:21304748C>G	ENST00000259555.4	-	1	564	c.508G>C	c.(508-510)Gaa>Caa	p.E170Q		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	170					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCATGATTTCTGCTCTGACA	0.398000													13	229					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70809025	70809025	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:70809025C>G	ENST00000358731.4	+	19	4524	c.4261C>G	c.(4261-4263)Caa>Gaa	p.Q1421E	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1421					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATCTCTTCCTCAAGAACAGAA	0.433000													3	46					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36714329	36714329	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:36714329C>T	ENST00000216181.5	-	11	1380	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	384	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGTGAAATCGGTCACATTG	0.502000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				32	179					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922081	37922081	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37922081G>C	ENST00000346872.3	-	8	1553	c.1492C>G	c.(1492-1494)Cac>Gac	p.H498D	IKZF3_ENST00000377952.2_Missense_Mutation_p.H277D|IKZF3_ENST00000439167.2_Missense_Mutation_p.H425D|IKZF3_ENST00000467757.1_Missense_Mutation_p.H442D|IKZF3_ENST00000394189.2_Missense_Mutation_p.H316D|IKZF3_ENST00000350532.3_Missense_Mutation_p.H459D|IKZF3_ENST00000377945.3_Missense_Mutation_p.H364D|IKZF3_ENST00000346243.3_Missense_Mutation_p.H420D|IKZF3_ENST00000439016.2_Missense_Mutation_p.H403D|IKZF3_ENST00000377944.3_Missense_Mutation_p.H355D|IKZF3_ENST00000351680.3_Missense_Mutation_p.H459D|IKZF3_ENST00000583368.1_Missense_Mutation_p.H251D|IKZF3_ENST00000535189.1_Missense_Mutation_p.H464D|IKZF3_ENST00000377958.2_Missense_Mutation_p.H411D	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	498					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGGCTATGTGAGACGAGAAC	0.483000													42	170					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119044705	119044705	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:119044705C>G	ENST00000409109.1	+	5	1334	c.747C>G	c.(745-747)ctC>ctG	p.L249L	NLRX1_ENST00000292199.2_Silent_p.L249L|NLRX1_ENST00000525863.1_Silent_p.L249L|NLRX1_ENST00000409265.4_Silent_p.L249L|NLRX1_ENST00000409991.1_Silent_p.L249L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	249	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATCTCAACCTCGACTTCCGGC	0.602000													9	64					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007356	6007356	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:6007356C>G	ENST00000399933.3	-	1	431	c.432G>C	c.(430-432)gaG>gaC	p.E144D	KIAA2026_ENST00000381461.2_Missense_Mutation_p.E144D	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	144										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGGCGAACTTCTCTTCCATCT	0.687000													15	41					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107219749	107219749	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:107219749G>C	ENST00000282251.5	-	14	2143	c.2116C>G	c.(2116-2118)Ctt>Gtt	p.L706V	CWF19L2_ENST00000433523.1_Missense_Mutation_p.L706V	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	706							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCCTCAGTAAGAGACCGTACG	0.368000													4	41					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49118940	49118940	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:49118940C>T	ENST00000262013.7	-	5	871	c.663G>A	c.(661-663)caG>caA	p.Q221Q	SPAG9_ENST00000510283.1_Silent_p.Q78Q|SPAG9_ENST00000357122.4_Silent_p.Q221Q|SPAG9_ENST00000505279.1_Silent_p.Q221Q	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	221					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTCCTTTCTGAGCATCAG	0.428000													10	82					0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473680	52473680	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:52473680C>G	ENST00000219746.9	-	7	1472	c.1188G>C	c.(1186-1188)caG>caC	p.Q396H	TOX3_ENST00000407228.3_Missense_Mutation_p.Q391H	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	396					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						ATGTGACAATCTGGTTCATGG	0.532000													20	155					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45362060	45362060	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:45362060G>C	ENST00000559488.1	+	4	629	c.613G>C	c.(613-615)Gat>Cat	p.D205H	ITGB3_ENST00000560629.1_Splice_Site_p.*193S|ITGB3_ENST00000435993.2_Splice_Site_p.D158H|ITGB3_ENST00000571680.1_Splice_Site_p.D205H	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	205	VWFA.			D -> EY (in Ref. 11; AAA67537).	activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CCCCTGCTATGAGTAAGTCCC	0.537000													10	143					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57647361	57647361	+	Missense_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:57647361T>C	ENST00000269834.1	-	5	729	c.344A>G	c.(343-345)cAg>cGg	p.Q115R		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TACACCTTTCTGCGTAGTCAG	0.413000													15	96					0	0	1	0	0
USP46	64854	broad.mit.edu	37	4	53476771	53476771	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:53476771C>G	ENST00000441222.3	-	5	758	c.574G>C	c.(574-576)Gat>Cat	p.D192H	USP46_ENST00000508499.1_Missense_Mutation_p.D185H|USP46_ENST00000451218.2_Missense_Mutation_p.D165H	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46						behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			AAATCTTCATCTTTGCTACTA	0.348000													3	25					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157435	155157435	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:155157435G>A	ENST00000357232.4	-	25	7003	c.7004C>T	c.(7003-7005)tCt>tTt	p.S2335F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCATTTATAGAGCATATGGT	0.403000													7	92					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127669600	127669600	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:127669600G>T	ENST00000249363.3	-	2	1351	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	365	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CCGACCCTCAGAAATGTTGAG	0.612000													6	49					8.12818e-05	8.54753e-05	1	1	0
TMCO6	55374	broad.mit.edu	37	5	140023482	140023482	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140023482C>G	ENST00000394671.3	+	9	1137	c.1036C>G	c.(1036-1038)Ctg>Gtg	p.L346V	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.L352V|TMCO6_ENST00000537378.1_Missense_Mutation_p.L106V	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	346					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTATCCTTCTGCAGTTCTT	0.532000													5	63					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5668276	5668276	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:5668276G>C	ENST00000292123.5	+	21	2829	c.2722G>C	c.(2722-2724)Gat>Cat	p.D908H	SAFB_ENST00000588852.1_Missense_Mutation_p.D910H|SAFB_ENST00000454510.1_Missense_Mutation_p.D841H|SAFB_ENST00000538656.1_Missense_Mutation_p.D752H|SAFB_ENST00000592224.1_Missense_Mutation_p.D909H|SAFB_ENST00000433404.1_Missense_Mutation_p.D740H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	908	Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CAGGCCCAGCGATGCCCGCTT	0.622000													15	87					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492627	42492627	+	Splice_Site	SNP	C	C	A	rs112099446		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:42492627C>A	ENST00000545399.1	-	2	286		c.e2+1		ATP1A3_ENST00000602133.1_Splice_Site|ATP1A3_ENST00000302102.5_Splice_Site|ATP1A3_ENST00000543770.1_Splice_Site|ATP1A3_ENST00000468774.2_Splice_Site	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide						ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCGAGGCTTACCATAGCCACC	0.597000													53	421					3.10996e-30	3.52013e-30	1	1	0
MEPE	56955	broad.mit.edu	37	4	88767428	88767428	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:88767428C>G	ENST00000497649.2	+	6	1714	c.1336C>G	c.(1336-1338)Cat>Gat	p.H446D	MEPE_ENST00000395102.4_Missense_Mutation_p.H501D|MEPE_ENST00000361056.3_Missense_Mutation_p.H470D|MEPE_ENST00000540395.1_Missense_Mutation_p.H357D|MEPE_ENST00000560249.1_Missense_Mutation_p.H357D|MEPE_ENST00000424957.3_Missense_Mutation_p.H470D|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	470					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CAGAAAATATCATTATGTACC	0.418000													8	223					0	0	1	0	0
FAM217A	222826	broad.mit.edu	37	6	4069820	4069820	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:4069820C>T	ENST00000274673.3	-	7	1040	c.637G>A	c.(637-639)Gat>Aat	p.D213N	FAM217A_ENST00000380188.2_5'UTR	NM_173563.2	NP_775834.2	Q8IXS0	CF146_HUMAN	family with sequence similarity 217, member A	213																	AGTAAAGTATCATTTGTCTTC	0.348000													9	45					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30696317	30696317	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:30696317G>C	ENST00000394670.4	+	11	1337	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	ZNF207_ENST00000577908.1_Missense_Mutation_p.E390Q|ZNF207_ENST00000342555.6_Missense_Mutation_p.E393Q|ZNF207_ENST00000394673.2_Missense_Mutation_p.E359Q|ZNF207_ENST00000321233.6_Missense_Mutation_p.E374Q|ZNF207_ENST00000341711.6_Missense_Mutation_p.E291Q	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCCCAGGAAGAGAGAAGGGC	0.458000													4	60					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833715	168833715	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:168833715C>G	ENST00000464456.1	-	7	2581	c.1381G>C	c.(1381-1383)Gag>Cag	p.E461Q	MECOM_ENST00000494292.1_Missense_Mutation_p.E649Q|MECOM_ENST00000472280.1_Missense_Mutation_p.E462Q|MECOM_ENST00000433243.2_Missense_Mutation_p.E462Q|MECOM_ENST00000264674.3_Missense_Mutation_p.E526Q|MECOM_ENST00000468789.1_Missense_Mutation_p.E461Q|MECOM_ENST00000460814.1_Missense_Mutation_p.E461Q|MECOM_ENST00000392736.3_Missense_Mutation_p.E461Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTCTGCTCCTCTAAAGATGGT	0.393000													5	62					0	0	1	0	0
CDS2	8760	broad.mit.edu	37	20	5154173	5154173	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:5154173C>T	ENST00000460006.1	+	2	369	c.62C>T	c.(61-63)tCa>tTa	p.S21L	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	21					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ACTTAGGAGTCAGAGTCAGAA	0.512000													25	190					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127413993	127413993	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:127413993C>G	ENST00000337623.3	+	5	722	c.617C>G	c.(616-618)tCc>tGc	p.S206C	C10orf137_ENST00000356792.4_Missense_Mutation_p.S206C	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCAATTCTTTCCAAGTTTTTA	0.333000													4	16					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7415537	7415537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:7415537G>T	ENST00000322644.6	+	26	4765	c.4366G>T	c.(4366-4368)Gag>Tag	p.E1456*		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1456					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGGGTCTCTGAGAATATCAT	0.592000													9	60					0.00448238	0.00459149	1	1	0
ZNF141	7700	broad.mit.edu	37	4	367475	367475	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:367475C>G	ENST00000240499.7	+	4	1398	c.1249C>G	c.(1249-1251)Cat>Gat	p.H417D	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	417					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TAAGAAAATTCATAGTGCAGA	0.353000													8	91					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37627332	37627332	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:37627332C>T	ENST00000249071.6	-	5	508	c.387G>A	c.(385-387)ctG>ctA	p.L129L	RAC2_ENST00000405484.1_Silent_p.L122L|RAC2_ENST00000406508.1_Silent_p.L85L	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	129					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCTTCTCCTTCAGTTTCTCGA	0.627000													7	52					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23064978	23064978	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:23064978C>G	ENST00000246006.4	-	1	1999	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	618					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCTTCTTCTCCTTCTTCTCC	0.597000													63	188					0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79698392	79698392	+	Silent	SNP	G	G	A	rs149316031	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:79698392G>A	ENST00000538312.1	+	5	688	c.354G>A	c.(352-354)aaG>aaA	p.K118K	FAM46D_ENST00000308293.5_Silent_p.K118K	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	118										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						ATGTAAAGAAGGAAAAGCTCT	0.378000													12	156					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116435738	116435738	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:116435738G>A	ENST00000397752.3	+	20	4028	c.3828G>A	c.(3826-3828)ctG>ctA	p.L1276L	MET_ENST00000318493.6_Silent_p.L1294L|MET_ENST00000539704.1_Silent_p.L146L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1276	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TCTGGGAGCTGATGACAAGAG	0.458000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	59	277					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183245381	183245381	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:183245381G>A	ENST00000511685.1	+	2	331	c.208G>A	c.(208-210)Gaa>Aaa	p.E70K	TENM3_ENST00000406950.2_Missense_Mutation_p.E70K					teneurin transmembrane protein 3																		GGTTCACAGAGAAGCAGACGA	0.458000													20	9					0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929440	119929440	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:119929440G>A	ENST00000361035.4	+	6	1079	c.796G>A	c.(796-798)Gag>Aag	p.E266K	HAO2_ENST00000325945.3_Missense_Mutation_p.E253K			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	253	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GCAGCTTGATGAGGTTCTTGC	0.458000													4	42					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910499	139910499	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:139910499C>G	ENST00000265662.5	-	22	3379	c.3232G>C	c.(3232-3234)Gac>Cac	p.D1078H	ABCA2_ENST00000341511.6_Missense_Mutation_p.D1078H|ABCA2_ENST00000371605.3_Missense_Mutation_p.D1077H			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1077	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D1078H(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGAGCCGGTCAAAGAGCACA	0.602000													7	86					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	127998988	127998988	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:127998988G>C	ENST00000324460.6	-	8	2051	c.1848C>G	c.(1846-1848)ttC>ttG	p.F616L		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	616					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TCTTAGCTTTGAAGTCTTCAA	0.433000										Prostate(1;0.17)			5	64					0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	10215531	10215531	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:10215531G>T	ENST00000256190.8	-	2	196	c.59C>A	c.(58-60)tCa>tAa	p.S20*		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	20	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.S20L(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACCTTCTCCTGATCCTGTTAA	0.333000													11	36					1.58986e-06	1.7112e-06	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65268407	65268407	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:65268407C>G	ENST00000534336.1	+	0	3175					NR_002819.2																						GGCTTATACTCATGAATCTTG	0.413000													3	50					0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53446126	53446126	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:53446126C>A	ENST00000371514.3	+	10	1052	c.884C>A	c.(883-885)aCa>aAa	p.T295K	SCP2_ENST00000371513.5_Missense_Mutation_p.T251K|SCP2_ENST00000371509.4_Missense_Mutation_p.T251K|SCP2_ENST00000528311.1_Missense_Mutation_p.T214K|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000407246.2_Missense_Mutation_p.T271K	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	295					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TCTGGCCTGACACCAAATGAT	0.383000													5	145					1.6384e-10	1.80362e-10	1	1	0
CCNE2	9134	broad.mit.edu	37	8	95895114	95895114	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:95895114C>A	ENST00000520509.1	-	10	1090	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	CCNE2_ENST00000308108.4_Missense_Mutation_p.D280Y|CCNE2_ENST00000396133.3_Missense_Mutation_p.D280Y			O96020	CCNE2_HUMAN	cyclin E2	280					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	p.D280Y(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATACACAGATCTAAAAGCTAA	0.373000													7	97					0.00198382	0.00203771	1	1	0
MAPK13	5603	broad.mit.edu	37	6	36106787	36106787	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:36106787G>A	ENST00000211287.4	+	11	1235	c.973G>A	c.(973-975)Gat>Aat	p.D325N	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.D315N|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	325					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GCAGCCGTTTGATGATTCCTT	0.607000													14	38					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220405067	220405067	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:220405067C>T	ENST00000243776.6	-	4	1614	c.1366G>A	c.(1366-1368)Gat>Aat	p.D456N	CHPF_ENST00000535926.1_Missense_Mutation_p.D294N	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	456						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CGGGCCGGATCAAAGCGTCGG	0.667000													12	66					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364560	10364560	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:10364560G>C	ENST00000377093.4	+	21	3470	c.3317G>C	c.(3316-3318)gGa>gCa	p.G1106A	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.G1106A|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TATAACACTGGAGGTCAGTTA	0.498000													6	71					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412866	77412866	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:77412866C>G	ENST00000308488.6	-	6	1710	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	RSF1_ENST00000360355.2_Missense_Mutation_p.E439Q|RSF1_ENST00000480887.1_Missense_Mutation_p.E218Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	470					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTATAGCTCTCTTCCTTTGTC	0.393000													8	75					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22206966	22206966	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:22206966C>G	ENST00000374695.3	-	16	2164	c.2085G>C	c.(2083-2085)caG>caC	p.Q695H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	695	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGTACACGGTCTGGATGAGCA	0.647000													8	32					0	0	1	0	0
LRRC73	221424	broad.mit.edu	37	6	43477448	43477448	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:43477448G>T	ENST00000372441.1	-	1	976	c.76C>A	c.(76-78)Cgc>Agc	p.R26S		NM_001012974.1	NP_001012992.1	Q5JTD7	CF154_HUMAN	leucine rich repeat containing 73	26																	GCGTTGTCGCGAAGGCCGCGG	0.741000													3	19					0.115264	0.116154	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7650752	7650752	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:7650752G>C	ENST00000299492.4	+	10	1339	c.951G>C	c.(949-951)gtG>gtC	p.V317V	PPFIBP2_ENST00000530181.1_Silent_p.V174V|PPFIBP2_ENST00000528883.1_Silent_p.V205V|PPFIBP2_ENST00000533792.1_Silent_p.V159V	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	317					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGGAGATTGTGATGGTCACTC	0.478000													8	58					0	0	1	0	0
CD226	10666	broad.mit.edu	37	18	67534596	67534596	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:67534596C>A	ENST00000280200.4	-	6	1150	c.882G>T	c.(880-882)caG>caT	p.Q294H	CD226_ENST00000581982.1_Missense_Mutation_p.Q139H|CD226_ENST00000582621.1_Missense_Mutation_p.Q294H|CD226_ENST00000577287.1_Missense_Mutation_p.Q139H	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	294					cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AACTTACCTTCTGTGTATCCC	0.328000													5	109					0.0215528	0.0218458	1	1	0
CYP11B2	1585	broad.mit.edu	37	8	143994805	143994805	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:143994805G>C	ENST00000323110.2	-	6	1019	c.1017C>G	c.(1015-1017)atC>atG	p.I339M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	339			I -> T (in dbSNP:rs4544).		aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CCTGGCGCAGGATCTGCTGCA	0.627000									Familial Hyperaldosteronism type I				25	193					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154832801	154832801	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:154832801A>G	ENST00000460393.1	+	4	335	c.215A>G	c.(214-216)aAc>aGc	p.N72S	MME_ENST00000477669.1_3'UTR|MME_ENST00000493237.1_Missense_Mutation_p.N72S|MME_ENST00000360490.2_Missense_Mutation_p.N72S|MME_ENST00000462745.1_Missense_Mutation_p.N72S|MME_ENST00000492661.1_Missense_Mutation_p.N72S	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	72					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	CTGATCCAAAACATGGATGCC	0.448000													10	71					0	0	1	0	0
PRPF18	8559	broad.mit.edu	37	10	13647668	13647668	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:13647668G>C	ENST00000378572.3	+	4	447	c.287G>C	c.(286-288)aGa>aCa	p.R96T		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	96					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GAACCAATCAGACTATTTGGA	0.343000													6	119					0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19058381	19058381	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:19058381G>C	ENST00000380502.3	-	16	2851	c.2384C>G	c.(2383-2385)tCa>tGa	p.S795*	HAUS6_ENST00000380496.1_Nonsense_Mutation_p.S659*	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	795					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTGGCCTCTGAACTACTGGA	0.393000													10	50					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74688924	74688924	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:74688924C>T	ENST00000233616.4	-	4	2154	c.1992G>A	c.(1990-1992)ctG>ctA	p.L664L	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.L558L	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	664					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCTGGGCTTCAGCTGTACTG	0.582000													10	127					0	0	1	0	0
VRK3	51231	broad.mit.edu	37	19	50491631	50491631	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:50491631C>G	ENST00000599538.1	-	12	1879	c.1215G>C	c.(1213-1215)caG>caC	p.Q405H	VRK3_ENST00000316763.3_Missense_Mutation_p.Q405H|VRK3_ENST00000594948.1_Missense_Mutation_p.Q405H|VRK3_ENST00000601912.1_Missense_Mutation_p.Q355H|VRK3_ENST00000377011.2_Missense_Mutation_p.Q355H|VRK3_ENST00000601341.1_Missense_Mutation_p.Q355H|VRK3_ENST00000443401.2_Missense_Mutation_p.Q174H|VRK3_ENST00000594092.1_Missense_Mutation_p.Q405H|VRK3_ENST00000593919.1_Missense_Mutation_p.Q405H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	405	Protein kinase.					nucleus	ATP binding|protein kinase activity	p.Q405H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		AGACTCACTTCTGTTTTTGCT	0.567000													6	74					0	0	1	0	0
RMDN3	55177	broad.mit.edu	37	15	41044231	41044231	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:41044231C>G	ENST00000260385.6	-	2	1400	c.333G>C	c.(331-333)ctG>ctC	p.L111L	RMDN3_ENST00000338376.3_Silent_p.L111L|RMDN3_ENST00000558560.1_5'UTR					regulator of microtubule dynamics 3																		GGCTGCTTCTCAGCTCCTCCA	0.627000													4	63					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86257381	86257381	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:86257381C>T	ENST00000263857.6	-	31	5095	c.4717G>A	c.(4717-4719)Gag>Aag	p.E1573K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1512K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1573					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCTCCTTCTCGTTCTTATTG	0.498000													11	47					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19378832	19378832	+	Missense_Mutation	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:19378832A>T	ENST00000389363.4	-	7	746	c.674T>A	c.(673-675)cTc>cAc	p.L225H	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	225						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			AGCAAGGATGAGATATATGAC	0.597000													19	47					0	0	1	0	0
C11orf82	220042	broad.mit.edu	37	11	82643371	82643371	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:82643371G>A	ENST00000533655.1	+	6	1203	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	C11orf82_ENST00000329143.3_Missense_Mutation_p.E30K|C11orf82_ENST00000430323.2_Missense_Mutation_p.E331K|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	331					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CAGTCATCATGAAATTGGAGT	0.378000													7	87					0	0	1	0	0
SMNDC1	10285	broad.mit.edu	37	10	112058423	112058423	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:112058423G>C	ENST00000369603.5	-	3	449	c.246C>G	c.(244-246)gtC>gtG	p.V82V	SMNDC1_ENST00000471297.1_5'UTR|SMNDC1_ENST00000369592.1_Silent_p.V82V	NM_005871.3	NP_005862.1	O75940	SPF30_HUMAN	survival motor neuron domain containing 1		Tudor.				apoptosis|induction of apoptosis|mRNA processing|RNA splicing, via transesterification reactions	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	4		Breast(234;0.174)		Epithelial(162;6.86e-05)|all cancers(201;0.00149)|BRCA - Breast invasive adenocarcinoma(275;0.119)		CTTCACTCCAGACTGCCATAC	0.353000													4	25					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23240304	23240304	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:23240304G>C	ENST00000258742.5	+	7	1471	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	404	Interaction with GLE1.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCAATCCAAGAAATTTACTC	0.338000													23	57					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867770	45867770	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:45867770G>C	ENST00000391945.4	-	8	707	c.630C>G	c.(628-630)caC>caG	p.H210Q	ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.H186Q|ERCC2_ENST00000391944.3_Missense_Mutation_p.H132Q|ERCC2_ENST00000485403.2_Missense_Mutation_p.H186Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	210	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCAGGAGGTAGTGGTAGCTAT	0.642000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				50	40					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209116242	209116242	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:209116242C>T	ENST00000415913.1	-	3	415	c.34G>A	c.(34-36)Gag>Aag	p.E12K	IDH1_ENST00000446179.1_Missense_Mutation_p.E12K|IDH1_ENST00000345146.2_Missense_Mutation_p.E12K	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	12					2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CCTTGCATCTCTACCACAGAA	0.323000			Mis		gliobastoma								6	15					0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41582143	41582143	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:41582143G>C	ENST00000262415.3	+	12	1750	c.1678G>C	c.(1678-1680)Gag>Cag	p.E560Q	DHX8_ENST00000540306.1_Missense_Mutation_p.E560Q	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	560						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GTCAATCCTTGAGCAGAGGGA	0.468000													32	120					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6586791	6586791	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:6586791C>G	ENST00000377705.5	-	11	1956	c.1924G>C	c.(1924-1926)Gct>Cct	p.A642P		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	642					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCAATAGCTCCAACGAGC	0.567000													16	76					0	0	1	0	0
ZBP1	81030	broad.mit.edu	37	20	56191454	56191454	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:56191454C>T	ENST00000340462.4	-	2	385	c.105G>A	c.(103-105)gtG>gtA	p.V35V	ZBP1_ENST00000541799.1_Silent_p.V35V|ZBP1_ENST00000371173.3_Silent_p.V35V|ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000343535.4_Silent_p.V35V			Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	35						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGCATTCCTTCACCAGCTGGG	0.587000													28	94					0	0	1	0	0
KMT2E	55904	broad.mit.edu	37	7	104719314	104719314	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:104719314C>G	ENST00000334877.4	+	12	1686	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	KMT2E_ENST00000311117.3_Missense_Mutation_p.F384L|KMT2E_ENST00000476671.1_Missense_Mutation_p.F384L|KMT2E_ENST00000257745.4_Missense_Mutation_p.F384L|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		TTGTGTTATTCTACTCTAAAT	0.413000													17	82					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117315	37117315	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37117315C>T	ENST00000435416.1	+	3	2008	c.513C>T	c.(511-513)ctC>ctT	p.L171L	ZNF382_ENST00000423582.1_Silent_p.L123L|ZNF382_ENST00000292928.2_Silent_p.L172L|ZNF382_ENST00000439428.1_Silent_p.L171L			Q96SR6	ZN382_HUMAN	zinc finger protein 382	172	Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AATCACTCCTCAATACCAAGC	0.368000													10	207					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322847	55322847	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:55322847G>T	ENST00000314644.2	+	1	1065	c.1065G>T	c.(1063-1065)tgG>tgT	p.W355C		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGAGAATATGGAACAGACTGA	0.313000										HNSCC(20;0.049)			7	121					2.0095e-06	2.16108e-06	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15634227	15634227	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:15634227C>T	ENST00000378076.3	-	22	2641	c.2288G>A	c.(2287-2289)aGa>aAa	p.R763K		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	763					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTCTAACCTTCTGATTTGGAG	0.398000													4	36					0	0	1	0	0
PRR11	55771	broad.mit.edu	37	17	57262550	57262550	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:57262550G>C	ENST00000262293.4	+	3	576	c.264G>C	c.(262-264)caG>caC	p.Q88H		NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	88										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GCTGGTGCCAGAACTGCATAA	0.393000													6	72					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131534	142131534	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:142131534C>G	ENST00000390375.2	-	0	261																											GCCTCTCTGTCTCTCTTCCTC	0.532000													7	108					0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743315	102743315	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:102743315C>A	ENST00000210633.3	+	14	2037	c.1959C>A	c.(1957-1959)ctC>ctA	p.L653L	RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Silent_p.L648L|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	648					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCTATAGTCTCACAGTCCGGC	0.602000													12	21					2.68362e-12	2.98193e-12	1	1	0
CADM4	199731	broad.mit.edu	37	19	44127491	44127491	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44127491G>C	ENST00000222374.2	-	9	1206	c.1158C>G	c.(1156-1158)ttC>ttG	p.F386L		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	386					cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GTCAGATGAAGAATTCCTCTT	0.572000													41	168					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140958172	140958172	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140958172G>A	ENST00000253811.6	-	10	1094	c.954C>T	c.(952-954)atC>atT	p.I318I	DIAPH1_ENST00000398557.4_Silent_p.I318I|DIAPH1_ENST00000518047.1_Silent_p.I309I|DIAPH1_ENST00000398566.3_Silent_p.I309I|DIAPH1_ENST00000389054.3_Silent_p.I318I|DIAPH1_ENST00000389057.5_Silent_p.I309I|DIAPH1_ENST00000398562.2_Silent_p.I309I|DIAPH1_ENST00000520569.1_Silent_p.I264I			O60610	DIAP1_HUMAN	diaphanous-related formin 1	318	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGAGCATTGATCAGCTGTA	0.423000													22	62					0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12640559	12640559	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:12640559G>A	ENST00000376223.2	-	2	714	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	DHRS3_ENST00000482265.1_5'UTR	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	111					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding	p.R111W(1)		cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	ACCTTCTCCCGGACGGCCTTG	0.577000													17	50					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11308580	11308580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:11308580G>A	ENST00000380732.3	-	2	606	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron			O43182	RHG06_HUMAN	Rho GTPase activating protein 6	196					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCTAAGATCTGAAGATCATAC	0.363000													4	75					0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282072	71282072	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:71282072G>A	ENST00000335793.3	-	2	962	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	CDC42EP4_ENST00000439510.2_Silent_p.L120L|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	190					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGACAGGCAGATCTGTCAGA	0.657000													29	119					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234905161	234905161	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:234905161G>A	ENST00000324695.4	+	22	3170		c.e22+1		TRPM8_ENST00000433712.2_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8							integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTGTCTGCTGTGAGTGGTTT	0.453000													11	26					0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67288118	67288118	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:67288118G>A	ENST00000371026.3	-	16	2477	c.2422C>T	c.(2422-2424)Ctg>Ttg	p.L808L	WDR78_ENST00000431318.1_Silent_p.L521L	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	808										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTCCTACCAGAAGGCAATCT	0.393000													17	37					0	0	1	0	0
KIAA1045	23349	broad.mit.edu	37	9	34971464	34971464	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:34971464G>A	ENST00000242315.3	+	2	251	c.169G>A	c.(169-171)Gag>Aag	p.E57K	KIAA1045_ENST00000544237.1_Missense_Mutation_p.E57K|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	57							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGAGGTACAGGAGGAGAAGGA	0.667000													53	70					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123184087	123184087	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:123184087G>A	ENST00000371160.1	+	11	1235	c.945G>A	c.(943-945)tgG>tgA	p.W315*	STAG2_ENST00000218089.9_Nonsense_Mutation_p.W315*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.W315*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.W246*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371145.3_Nonsense_Mutation_p.W315*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.W315*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	315	SCD.				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTGGCATTTGGATGAAGATGT	0.378000													23	46					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42012031	42012031	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:42012031G>C	ENST00000395925.3	-	13	2092	c.2008C>G	c.(2008-2010)Cag>Gag	p.Q670E	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	670					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q670E(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGGGCTCCCTGAGTCGGTCGG	0.597000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				8	189					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40991016	40991016	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:40991016G>C	ENST00000293362.3	+	8	729	c.568G>C	c.(568-570)Gac>Cac	p.D190H	PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.D116H|PSME3_ENST00000592169.1_Missense_Mutation_p.D121H|PSME3_ENST00000590720.1_Missense_Mutation_p.D177H|PSME3_ENST00000441946.2_Missense_Mutation_p.D188H	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	177					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|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCTTATCTGGACCAGATTTC	0.507000													74	125					0	0	1	0	0
SLC4A7	9497	broad.mit.edu	37	3	27436492	27436492	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:27436492G>C	ENST00000295736.5	-	19	2861	c.2791C>G	c.(2791-2793)Caa>Gaa	p.Q931E	SLC4A7_ENST00000454389.1_Missense_Mutation_p.Q940E|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.Q816E|SLC4A7_ENST00000440156.1_Missense_Mutation_p.Q927E|SLC4A7_ENST00000437179.1_Missense_Mutation_p.Q812E|SLC4A7_ENST00000388777.4_Missense_Mutation_p.Q481E|SLC4A7_ENST00000446700.1_Missense_Mutation_p.Q923E|SLC4A7_ENST00000445684.1_Missense_Mutation_p.Q927E|SLC4A7_ENST00000428386.1_Missense_Mutation_p.Q807E|SLC4A7_ENST00000455077.1_Missense_Mutation_p.Q812E	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	931						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTGATTTGTTGATCCATAAAG	0.378000													8	25					0	0	1	0	0
GDPD3	79153	broad.mit.edu	37	16	30124682	30124682	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30124682G>A	ENST00000406256.3	-	1	495	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	40					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GCCCCCAGGCGGATGCGGAAG	0.652000													16	325					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671595	45671595	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:45671595G>C	ENST00000308064.2	-	4	1549	c.879C>G	c.(877-879)ctC>ctG	p.L293L		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	293					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ACTTGCCCTTGAGCCACGGGG	0.627000													13	94					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62589692	62589692	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:62589692C>G	ENST00000262435.9	-	4	388		c.e4-1		SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2						BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TCCAATATACCTAAAAAACAA	0.348000													4	93					0	0	1	0	0
FAM177A1	283635	broad.mit.edu	37	14	35522537	35522537	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:35522537G>C	ENST00000396472.1	+	4	609	c.150G>C	c.(148-150)aaG>aaC	p.K50N	FAM177A1_ENST00000382406.3_Missense_Mutation_p.K50N|FAM177A1_ENST00000280987.4_Missense_Mutation_p.K73N	NM_001079519.1	NP_001072987.1	Q8N128	F177A_HUMAN	family with sequence similarity 177, member A1	50										breast(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						TAGGAAAAAAGAAGAAAGTCC	0.363000													7	89					0	0	1	0	0
VHLL	391104	broad.mit.edu	37	1	156268883	156268883	+	Missense_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156268883T>C	ENST00000339922.3	-	1	545	c.98A>G	c.(97-99)gAg>gGg	p.E33G		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	33					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CATCTCCTCCTCGGCGCCCAA	0.632000													12	164					0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36396482	36396482	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:36396482G>T	ENST00000415803.2	-	2	1187	c.857C>A	c.(856-858)tCa>tAa	p.S286*	KIAA0895_ENST00000338533.5_Intron|KIAA0895_ENST00000436884.1_Intron|KIAA0895_ENST00000297063.6_Intron|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Intron|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000317020.6_Intron			Q8NCT3	K0895_HUMAN	KIAA0895	299										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACATAAAAATGAACTACCACT	0.333000													4	80					0.00909568	0.00928428	1	1	0
PAX8	7849	broad.mit.edu	37	2	113993005	113993005	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:113993005C>G	ENST00000348715.5	-	9	1129	c.974G>C	c.(973-975)tGt>tCt	p.C325S	AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000429538.3_Silent_p.V351V|PAX8_ENST00000263334.5_Missense_Mutation_p.C325S|PAX8_ENST00000397647.3_Intron|PAX8_ENST00000263335.7_Intron	NM_013952.3	NP_039246.1	Q06710	PAX8_HUMAN	paired box 8	442	Ser-rich.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACTGCCCGTACACGGAGGCAG	0.657000			T	PPARG	follicular thyroid		Thyroid dysgenesis						4	12					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55339883	55339883	+	Missense_Mutation	SNP	G	G	A	rs150706012	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:55339883G>A	ENST00000314634.3	+	1	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E94K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCCTTCAGCGAGTGCATGAT	0.458000													67	238					0	0	1	0	0
BRAT1	221927	broad.mit.edu	37	7	2577861	2577861	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:2577861C>T	ENST00000340611.4	-	14	2564	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K		NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	770					response to ionizing radiation	nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						AGCACAGCCTCAGGCTCCTGG	0.716000													8	55					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17464510	17464510	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:17464510G>C	ENST00000380647.3	+	21	3504	c.3420G>C	c.(3418-3420)gaG>gaC	p.E1140D	CNTLN_ENST00000425824.1_Missense_Mutation_p.E1140D|CNTLN_ENST00000262360.5_Missense_Mutation_p.E1140D			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1140						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CTCGAATGGAGAGGGATATAA	0.303000													8	77					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150418838	150418838	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150418838C>G	ENST00000401000.4	+	6	818	c.753C>G	c.(751-753)ttC>ttG	p.F251L	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.F277L|RPRD2_ENST00000539519.1_Missense_Mutation_p.F251L			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	277							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTGGAATTTTCTATGAAGCAC	0.353000													18	42					0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57793717	57793717	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:57793717G>A	ENST00000379655.4	-	18	2656	c.2399C>T	c.(2398-2400)tCg>tTg	p.S800L	KIFC3_ENST00000543930.1_Missense_Mutation_p.S658L|KIFC3_ENST00000445690.2_Missense_Mutation_p.S800L|KIFC3_ENST00000539578.1_Missense_Mutation_p.S742L|KIFC3_ENST00000541240.1_Missense_Mutation_p.S822L|KIFC3_ENST00000562903.1_Missense_Mutation_p.S661L|KIFC3_ENST00000465878.2_Missense_Mutation_p.S661L|KIFC3_ENST00000540079.2_Missense_Mutation_p.S698L|KIFC3_ENST00000421376.2_Missense_Mutation_p.S661L	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	800					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGCCCGTGCCGAGGGCTGTGG	0.706000													4	23					0	0	1	0	0
ULBP3	79465	broad.mit.edu	37	6	150387102	150387102	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:150387102C>T	ENST00000367339.2	-	2	313	c.285G>A	c.(283-285)ctG>ctA	p.L95L	ULBP3_ENST00000438272.2_Silent_p.L95L			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CCACCTCTCTCAGCATTTCCA	0.522000													7	97					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53260054	53260054	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:53260054C>T	ENST00000262593.5	+	7	1143	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	DOK5_ENST00000395939.1_Missense_Mutation_p.R157C	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	265							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GCCCCTGCCTCGCAGCGCCTA	0.627000													10	71					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055779	6055779	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:6055779C>G	ENST00000409021.3	-	13	2253	c.1804G>C	c.(1804-1806)Gaa>Caa	p.E602Q	JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E602Q|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E437Q|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E417Q|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E602Q	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	602	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCTTACTTCGAGTTCTAGC	0.403000													64	128					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60794805	60794805	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:60794805G>T	ENST00000340177.5	-	1	506	c.222C>A	c.(220-222)ctC>ctA	p.L74L	HRH3_ENST00000317393.6_Silent_p.L74L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	74					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	TGGCGAGGTTGAGCAGGAAGA	0.682000													9	57					0.000673444	0.000697782	1	1	0
TIPRL	261726	broad.mit.edu	37	1	168168160	168168160	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:168168160G>T	ENST00000367833.2	+	6	761	c.616G>T	c.(616-618)Gac>Tac	p.D206Y		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	206	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					AATACAGGCTGACAAGACCTA	0.284000													7	25					0.000157383	0.000164971	1	1	0
GABPB1	2553	broad.mit.edu	37	15	50570913	50570913	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:50570913G>C	ENST00000380877.3	-	9	1491	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	GABPB1_ENST00000543881.1_Silent_p.L292L|GABPB1_ENST00000220429.8_Silent_p.L368L	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	368					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CTTTCTTTAGGAGCTGCTGTC	0.373000													4	47					0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170592592	170592592	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:170592592C>G	ENST00000392647.2	+	2	1312	c.1068C>G	c.(1066-1068)ctC>ctG	p.L356L	KLHL23_ENST00000272797.4_Silent_p.L356L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	356										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TGCCAATGCTCAATGCCAGGT	0.473000													58	84					0	0	1	0	0
MRPL9	65005	broad.mit.edu	37	1	151733963	151733963	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:151733963C>T	ENST00000368830.3	-	5	636	c.552G>A	c.(550-552)ctG>ctA	p.L184L	MRPL9_ENST00000467306.1_5'UTR|MRPL9_ENST00000368829.3_Intron	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	184					translation	mitochondrial ribosome	structural constituent of ribosome			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTCAGGGTTCAGCTCCCATT	0.468000													8	115					0	0	1	0	0
NME2	4831	broad.mit.edu	37	17	49244200	49244200	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:49244200C>G	ENST00000555572.1	+	6	605	c.429C>G	c.(427-429)aaC>aaG	p.N143K	NME1-NME2_ENST00000393198.3_Missense_Mutation_p.N118K|NME1-NME2_ENST00000512737.1_Missense_Mutation_p.N3K|NME1-NME2_ENST00000393190.1_Missense_Mutation_p.N3K|NME1-NME2_ENST00000513177.1_Missense_Mutation_p.N3K|NME1-NME2_ENST00000514264.2_Missense_Mutation_p.N3K|NME2_ENST00000393193.2_Missense_Mutation_p.N118K|NME1-NME2_ENST00000503064.1_Missense_Mutation_p.N3K|NME1-NME2_ENST00000393183.3_5'UTR|NME1-NME2_ENST00000393185.1_5'UTR|NME1-NME2_ENST00000608447.1_Missense_Mutation_p.N143K|NME2_ENST00000376392.6_Missense_Mutation_p.N118K					NME/NM23 nucleoside diphosphate kinase 2											endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCATGGCCAACCTGGAGCGCA	0.731000													3	39					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76409426	76409426	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:76409426C>G	ENST00000357063.3	+	19	4700	c.3440C>G	c.(3439-3441)tCt>tGt	p.S1147C	LMO7_ENST00000465261.2_Missense_Mutation_p.S862C|LMO7_ENST00000341547.4_Missense_Mutation_p.S813C|LMO7_ENST00000526202.1_Missense_Mutation_p.S739C|LMO7_ENST00000321797.8_Missense_Mutation_p.S862C|LMO7_ENST00000377534.3_Missense_Mutation_p.S1147C			Q8WWI1	LMO7_HUMAN	LIM domain 7	1147						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TCAGAAAAATCTTCAAATCTA	0.383000													11	58					0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115644091	115644091	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:115644091G>A	ENST00000369301.3	+	5	1203	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	331					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AGCAAAAGGAGAACAACAACC	0.363000													5	30					0	0	1	0	0
IFNLR1	163702	broad.mit.edu	37	1	24483972	24483972	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:24483972G>C	ENST00000327535.1	-	7	1223	c.1211C>G	c.(1210-1212)tCt>tGt	p.S404C	IFNLR1_ENST00000374421.3_Missense_Mutation_p.S375C|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1			interferon, lambda receptor 1																		CAAATAGCCAGAGGACCCAGC	0.612000													8	78					0	0	1	0	0
RP2	6102	broad.mit.edu	37	X	46713216	46713216	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:46713216C>A	ENST00000218340.3	+	2	569	c.408C>A	c.(406-408)atC>atA	p.I136I		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	136	C-CAP/cofactor C-like.				cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						CTCAACCCATCATTGAGTCTT	0.398000													5	144					0.184627	0.185338	1	1	0
PLEKHG6	55200	broad.mit.edu	37	12	6437003	6437003	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:6437003G>A	ENST00000449001.2	+	14	2652	c.2158G>A	c.(2158-2160)Gag>Aag	p.E720K	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E752K|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.E282K|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E752K	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	752					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCAAAGGATTGAGGGGGCCGA	0.662000													10	27					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006437	30006437	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30006437G>T	ENST00000279392.3	-	3	1118	c.288C>A	c.(286-288)ttC>ttA	p.F96L	HIRIP3_ENST00000564026.1_Missense_Mutation_p.F96L|HIRIP3_ENST00000566471.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	96					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						ACTCTGAATTGAAGCGGAACC	0.552000													4	127					0.000602214	0.000624971	1	1	0
PRKAR1B	5575	broad.mit.edu	37	7	751071	751071	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:751071C>A	ENST00000406797.1	-	2	246	c.72G>T	c.(70-72)ctG>ctT	p.L24L	PRKAR1B_ENST00000544935.1_Silent_p.L24L|PRKAR1B_ENST00000360274.4_Silent_p.L24L|PRKAR1B_ENST00000537384.1_Silent_p.L24L|PRKAR1B_ENST00000403562.1_Silent_p.L24L|PRKAR1B_ENST00000488474.1_5'UTR	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	24	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGATCCCGTGCAGCTGCACGT	0.637000													4	100					0.150653	0.15135	1	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726649	32726649	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:32726649C>T	ENST00000435145.2	-	3	685	c.624G>A	c.(622-624)caG>caA	p.Q208Q	HLA-DQB2_ENST00000437316.2_Silent_p.Q208Q|HLA-DQB2_ENST00000411527.1_Silent_p.Q208Q			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	208					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TGATGGGGCTCTGGAGGCTGG	0.562000													6	46					0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917861	11917861	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:11917861C>T	ENST00000323169.5	+	3	1424	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAAAGCATTTCATTGTGTCAG	0.413000													7	42					0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21015967	21015967	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:21015967G>C	ENST00000495827.2	-	4	358	c.313C>G	c.(313-315)Caa>Gaa	p.Q105E	PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Missense_Mutation_p.Q105E	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		ACTTCCTCTTGACTGGTGATC	0.343000													4	47					0	0	1	0	0
GLUL	2752	broad.mit.edu	37	1	182353731	182353731	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:182353731C>A	ENST00000311223.5	-	8	1827	c.931G>T	c.(931-933)Gac>Tac	p.D311Y	GLUL_ENST00000417584.2_Missense_Mutation_p.D311Y|GLUL_ENST00000339526.4_Missense_Mutation_p.D311Y|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000331872.6_Missense_Mutation_p.D311Y	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	311					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GCAGAAAAGTCGTTGATGTTG	0.547000													17	74					4.7546e-09	5.20116e-09	1	1	0
DDX11	1663	broad.mit.edu	37	12	31237975	31237975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:31237975G>T	ENST00000251758.5	+	5	804	c.553G>T	c.(553-555)Gag>Tag	p.E185*	DDX11_ENST00000228264.6_Nonsense_Mutation_p.E159*|DDX11_ENST00000545668.1_Nonsense_Mutation_p.E185*|DDX11_ENST00000542838.1_Nonsense_Mutation_p.E185*|DDX11_ENST00000350437.4_Nonsense_Mutation_p.E185*|DDX11_ENST00000407793.2_Nonsense_Mutation_p.E185*			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	185	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCCGGAGGCTGAGCGGCTGGA	0.607000										Multiple Myeloma(12;0.14)			3	16					0.115264	0.116154	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247592974	247592974	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:247592974C>A	ENST00000366497.2	+	5	3024	c.2244C>A	c.(2242-2244)ctC>ctA	p.L748L	NLRP3_ENST00000391828.3_Silent_p.L748L|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366496.2_Silent_p.L748L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000336119.3_Silent_p.L748L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	805					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AATTGGACCTCAGTGACAATT	0.512000													7	62					1.26484e-09	1.38655e-09	1	1	0
SCG2	7857	broad.mit.edu	37	2	224463100	224463100	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:224463100C>G	ENST00000305409.2	-	2	1133	c.901G>C	c.(901-903)Gac>Cac	p.D301H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	301					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGAGTTGGTCTTTACTCTCT	0.413000													12	115					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11598111	11598111	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:11598111C>G	ENST00000293771.5	-	4	1303	c.1167G>C	c.(1165-1167)aaG>aaC	p.K389N	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCAGACCTTTCTTGGTCTCGA	0.667000													4	65					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64612900	64612900	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:64612900G>A	ENST00000357395.3	+	85	15897	c.4753G>A	c.(4753-4755)Gaa>Aaa	p.E1585K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E5117K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.E5200K|SYNE2_ENST00000394768.2_Missense_Mutation_p.E1585K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E1834K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E5200K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5200					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAAAAACCTGAAAGTGTGAT	0.473000													9	33					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10251279	10251279	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:10251279C>T	ENST00000256458.4	+	4	521	c.431C>T	c.(430-432)tCt>tTt	p.S144F		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	144					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCAGGGTCCTCTCCAGCCAGA	0.577000													39	256					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83320048	83320048	+	Silent	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:83320048T>G	ENST00000262752.2	-	21	2050	c.2043A>C	c.(2041-2043)tcA>tcC	p.S681S	RPS6KA6_ENST00000543399.1_Silent_p.S681S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	681	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GAGTTATCCATGAGTGCTTTA	0.358000													9	69					0	0	1	0	0
ATG5	9474	broad.mit.edu	37	6	106634469	106634469	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:106634469C>G	ENST00000369076.3	-	8	1097	c.774G>C	c.(772-774)ctG>ctC	p.L258L	ATG5_ENST00000369070.1_Silent_p.L180L|ATG5_ENST00000343245.3_Silent_p.L258L|ATG5_ENST00000475645.1_5'UTR|ATG5_ENST00000360666.4_3'UTR	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	258					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CCGGGTAGCTCAGATGTTCAC	0.388000													5	26					0	0	1	0	0
SETD9	133383	broad.mit.edu	37	5	56212689	56212689	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:56212689G>C	ENST00000285947.2	+	6	1246	c.860G>C	c.(859-861)gGa>gCa	p.G287A	SETD9_ENST00000541720.1_Intron|SETD9_ENST00000475908.1_3'UTR	NM_153706.3	NP_714917.2	Q8NE22	CE035_HUMAN	SET domain containing 9	287																	ATCAATCAAGGAGAAGAGCTT	0.333000													3	32					0	0	1	0	0
FBXO5	26271	broad.mit.edu	37	6	153296336	153296336	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:153296336G>C	ENST00000367241.3	-	2	766	c.386C>G	c.(385-387)tCc>tGc	p.S129C	FBXO5_ENST00000229758.3_Missense_Mutation_p.S175C	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	175					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|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 mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		TAGCAGGCAGGATTGTAGACT	0.403000													7	67					0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34489412	34489412	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:34489412G>C	ENST00000242317.4	+	5	524	c.353G>C	c.(352-354)gGa>gCa	p.G118A	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	118					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCAGATGAAGGACGGCGGCAG	0.517000									Kartagener syndrome				9	89					0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65308409	65308409	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:65308409G>C	ENST00000301873.5	-	21	3178	c.2910C>G	c.(2908-2910)ctC>ctG	p.L970L	LTBP3_ENST00000536982.1_Silent_p.L596L|LTBP3_ENST00000322147.4_Silent_p.L970L|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Silent_p.L400L	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	970	TB 3.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGTCTGGGCAGAGGCTGTGGA	0.697000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	34					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150946215	150946215	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:150946215C>G	ENST00000261800.5	-	1	2290	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	760	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.E760*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCAGCCCTCCTCATTGCCA	0.507000													6	54					0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35441174	35441174	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:35441174G>C	ENST00000237536.4	-	6	2731	c.2390C>G	c.(2389-2391)tCt>tGt	p.S797C	SOGA1_ENST00000456801.2_Missense_Mutation_p.S400C|SOGA1_ENST00000357779.3_Missense_Mutation_p.S559C|SOGA1_ENST00000279034.6_Missense_Mutation_p.S559C	NM_080627.2	NP_542194.2	O94964	K0889_HUMAN	suppressor of glucose, autophagy associated 1	559										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GTCGGGCTTAGAGTCCAAGTC	0.597000													3	55					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154956440	154956440	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:154956440G>C	ENST00000368433.1	+	1	613	c.270G>C	c.(268-270)caG>caC	p.Q90H	FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000292180.3_Missense_Mutation_p.Q90H|FLAD1_ENST00000315144.10_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	90					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCCTTGCAGAGGGGCAGAG	0.612000													7	90					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949434	56949434	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:56949434C>G	ENST00000497933.1	+	1	214	c.67C>G	c.(67-69)Ctc>Gtc	p.L23V		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GTCACAGACTCTCGATTCCAT	0.602000													4	70					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114504653	114504653	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:114504653G>C	ENST00000375353.3	+	7	564	c.537G>C	c.(535-537)gaG>gaC	p.E179D		NM_182614.2	NP_872420.1			transmembrane protein 255B																		CCTACTATGAGTTCATCGGCG	0.622000													3	22					0	0	1	0	0
C1orf109	54955	broad.mit.edu	37	1	38155312	38155312	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:38155312C>T	ENST00000358011.4	-	2	430	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	C1orf109_ENST00000464085.1_Missense_Mutation_p.G81S	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	81										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ACGATGTCACCAGCCACCAGC	0.537000													10	387					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092896	51092896	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:51092896G>C	ENST00000395542.2	-	14	4108	c.3924C>G	c.(3922-3924)ttC>ttG	p.F1308L	COBL_ENST00000265136.7_Missense_Mutation_p.F1226L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1226										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCCCGTGCTGAACCTGGAGG	0.637000													13	95					0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97862214	97862214	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:97862214C>G	ENST00000447648.2	-	12	2042	c.1743G>C	c.(1741-1743)caG>caC	p.Q581H	TECPR1_ENST00000542604.1_Missense_Mutation_p.Q511H|TECPR1_ENST00000379795.3_Missense_Mutation_p.Q582H			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	581						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTGGAAGATCTGCTTCCTCC	0.657000													9	65					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32635064	32635064	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:32635064C>T	ENST00000242310.4	-	1	603	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	172					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.D172N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTAATAGCATCTTGGTCCTTA	0.458000													30	32					0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270785	84270785	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:84270785C>T	ENST00000568181.1	-	2	427	c.307G>A	c.(307-309)Gat>Aat	p.D103N	KCNG4_ENST00000308251.4_Missense_Mutation_p.D103N			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	103						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TCGTCGTAATCATCGCAGAGC	0.622000													6	66					0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149227030	149227030	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:149227030C>T	ENST00000309241.5	+	12	3013	c.2981C>T	c.(2980-2982)tCa>tTa	p.S994L	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S930L|PPARGC1B_ENST00000394320.3_3'UTR|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S955L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	994					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATTCCAATTCAGAAGAGGCC	0.512000													6	125					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144852315	144852315	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:144852315G>C	ENST00000367545.3	+	41	6034	c.6034G>C	c.(6034-6036)Gag>Cag	p.E2012Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2012					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCTGGACTTAGAGAAAGCCAG	0.473000													4	19					0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55509824	55509824	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:55509824G>C	ENST00000395472.2	+	2	397	c.65G>C	c.(64-66)aGa>aCa	p.R22T	SOCS4_ENST00000339298.2_Missense_Mutation_p.R22T|SOCS4_ENST00000555846.1_Missense_Mutation_p.R22T	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	22					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AGTCGGAGCAGAAGTGCCGAC	0.348000													6	85					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575066	61575066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:61575066G>A	ENST00000398571.2	-	15	2300	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	742					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATAAATTGTCGACAATTAAAT	0.428000													9	113					0	0	1	0	0
AAED1	195827	broad.mit.edu	37	9	99404110	99404110	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:99404110G>C	ENST00000375234.3	-	6	611	c.612C>G	c.(610-612)aaC>aaG	p.N204K		NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	204							antioxidant activity|oxidoreductase activity										GTAAAACAGAGTTGATAGGTT	0.373000													3	54					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071346	197071346	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:197071346G>C	ENST00000367409.4	-	18	7291	c.7035C>G	c.(7033-7035)ttC>ttG	p.F2345L	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2345	IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTGCATTCTGAAAGTAGACT	0.418000													8	61					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61765713	61765713	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:61765713G>A	ENST00000423902.2	+	31	6908	c.6429G>A	c.(6427-6429)ttG>ttA	p.L2143L	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2143					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CATCTTCCTTGAACCCACTGG	0.468000													22	23					0	0	1	0	0
CCT6P3	643180	broad.mit.edu	37	7	64530036	64530036	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:64530036C>G	ENST00000426828.1	+	0	858					NR_033416.1																						AATGCTATTTCAGGCTGACTC	0.403000													4	12					0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105187412	105187412	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:105187412C>G	ENST00000257700.2	+	5	802	c.571C>G	c.(571-573)Cta>Gta	p.L191V		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	191					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGCCTCCACTCTAGTGTCTAT	0.363000													4	80					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131024910	131024910	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:131024910C>G	ENST00000421699.2	-	13	997	c.985G>C	c.(985-987)Gct>Cct	p.A329P	GOLGA2_ENST00000609374.1_Missense_Mutation_p.A317P	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	329						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TGCATGCCAGCCTTCTCAGTC	0.502000													5	41					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140481	139140481	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:139140481C>G	ENST00000280612.5	-	5	964	c.685G>C	c.(685-687)Gat>Cat	p.D229H		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	229					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ATACTTGAATCTCTTCCTGAA	0.383000													10	62					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228480269	228480269	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:228480269G>C	ENST00000570156.2	+	45	12010	c.11936G>C	c.(11935-11937)aGa>aCa	p.R3979T	OBSCN_ENST00000284548.11_Missense_Mutation_p.R3550T|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2397T|OBSCN_ENST00000366707.4_Missense_Mutation_p.R669T|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3550T|OBSCN_ENST00000366709.4_Missense_Mutation_p.R669T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3017	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAGGCCAGAGAAGGGGCC	0.557000													18	80					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30410011	30410011	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30410011C>T	ENST00000320159.2	+	2	1816	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	480	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AACCCTACCTCTGTCCTGAAT	0.622000													16	126					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31647746	31647746	+	Missense_Mutation	SNP	C	C	T	rs137930923		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:31647746C>T	ENST00000375494.3	+	4	436	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	146	Leu-rich.				innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CGTGACATCGCGGGTGGCGCT	0.647000													9	89					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5214458	5214458	+	Missense_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:5214458T>C	ENST00000372412.4	-	30	4764	c.4531A>G	c.(4531-4533)Acg>Gcg	p.T1511A	PTPRS_ENST00000348075.2_Missense_Mutation_p.T1472A|PTPRS_ENST00000587303.1_Missense_Mutation_p.T1510A|PTPRS_ENST00000262963.6_Missense_Mutation_p.T1490A|PTPRS_ENST00000357368.4_Missense_Mutation_p.T1510A|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000592099.1_Missense_Mutation_p.T1063A|PTPRS_ENST00000353284.2_Missense_Mutation_p.T1063A|PTPRS_ENST00000588012.1_Missense_Mutation_p.T1472A			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1510	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TAGGTCTCCGTGCCTCTGTTG	0.582000													8	34					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424977	6424977	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:6424977G>A	ENST00000389906.2	-	3	896	c.797C>T	c.(796-798)tCa>tTa	p.S266L	APBB1_ENST00000608655.1_Missense_Mutation_p.S46L|APBB1_ENST00000311051.3_Missense_Mutation_p.S266L|APBB1_ENST00000608394.1_Missense_Mutation_p.S7L|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000609360.1_Missense_Mutation_p.S266L|APBB1_ENST00000299402.6_Missense_Mutation_p.S266L|APBB1_ENST00000608645.1_Missense_Mutation_p.S7L|APBB1_ENST00000609331.1_Missense_Mutation_p.S31L|APBB1_ENST00000530885.1_Missense_Mutation_p.S46L|APBB1_ENST00000608704.1_Missense_Mutation_p.S7L			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	266	WW.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATAGGTCCCTGAGGTGTCCTG	0.652000													43	81					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35580517	35580517	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:35580517G>A	ENST00000353139.5	-	28	3961	c.3480C>T	c.(3478-3480)ctC>ctT	p.L1160L	ACACA_ENST00000360679.3_Silent_p.L1065L|ACACA_ENST00000335166.5_Silent_p.L1045L|ACACA_ENST00000394406.2_Silent_p.L1123L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1123					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTGATAGGATGAGTTTCTAGA	0.373000													7	78					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58016043	58016043	+	Nonstop_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58016043G>C	ENST00000601674.1	+	3	412	c.179G>C	c.(178-180)tGa>tCa	p.*60S	ZNF773_ENST00000599847.1_Missense_Mutation_p.E18Q|ZNF773_ENST00000598770.1_Missense_Mutation_p.E17Q|ZNF773_ENST00000282292.4_Missense_Mutation_p.E18Q|ZNF773_ENST00000593916.1_Missense_Mutation_p.E17Q																							TGTGACCTTTGAGGACGTGGC	0.507000													9	93					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62393396	62393396	+	Splice_Site	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62393396C>T	ENST00000346178.4	-	25	2807	c.2792G>A	c.(2791-2793)gGa>gAa	p.G931E	GANAB_ENST00000540933.1_Splice_Site_p.G812E|GANAB_ENST00000534779.1_Splice_Site_p.G817E|GANAB_ENST00000356638.3_Splice_Site_p.G909E	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	909					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TTCTGGAGATCCTGGAGGAGG	0.522000													5	82					0	0	1	0	0
BUB1B	701	broad.mit.edu	37	15	40494887	40494887	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:40494887G>C	ENST00000287598.6	+	14	1921	c.1726G>C	c.(1726-1728)Gat>Cat	p.D576H	BUB1B_ENST00000412359.3_Missense_Mutation_p.D590H	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	576					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTGTCTCCAGATGTTTGTGT	0.413000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				11	75					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189867036	189867036	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:189867036G>A	ENST00000304636.3	+	35	2574	c.2404G>A	c.(2404-2406)Gaa>Aaa	p.E802K	COL3A1_ENST00000317840.5_Missense_Mutation_p.E802K	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	802	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGAGAGAGGTGAAACTGGCCC	0.443000													8	12					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4508724	4508724	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:4508724C>T	ENST00000272902.5	-	1	241	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	SUMF1_ENST00000534863.1_Missense_Mutation_p.R69Q|SUMF1_ENST00000458465.2_Missense_Mutation_p.R69Q|SUMF1_ENST00000405420.2_Missense_Mutation_p.R69Q|SUMF1_ENST00000383843.5_Missense_Mutation_p.R69Q	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	69						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CCGCGAGTATCGGTGAGCGGC	0.731000													3	10					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8253383	8253383	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:8253383G>C	ENST00000332175.8	+	17	3723	c.2686G>C	c.(2686-2688)Gag>Cag	p.E896Q	PTPRM_ENST00000400053.4_Missense_Mutation_p.E834Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.E683Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.E910Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.E909Q	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	896					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAAGTGTGCGGAGGGCTACGG	0.597000													3	37					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283878	152283878	+	Missense_Mutation	SNP	G	G	C	rs76017272	by1000genomes	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152283878G>C	ENST00000368799.1	-	3	3519	c.3484C>G	c.(3484-3486)Cag>Gag	p.Q1162E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1162	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGTCCTGACCCTCTTGG	0.607000									Ichthyosis				131	641					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10263956	10263956	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:10263956G>A	ENST00000360566.2	+	4	883	c.592G>A	c.(592-594)Gat>Aat	p.D198N	RRM2_ENST00000304567.5_Missense_Mutation_p.D138N	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	138					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	p.D138H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TGCAGCAAGCGATGGCATAGT	0.443000													53	98					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48578221	48578221	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:48578221C>G	ENST00000537810.1	-	24	3151	c.2547G>C	c.(2545-2547)aaG>aaC	p.K849N	FRYL_ENST00000503238.1_Missense_Mutation_p.K849N|FRYL_ENST00000507711.1_Missense_Mutation_p.K849N|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Missense_Mutation_p.K849N			O94915	FRYL_HUMAN	FRY-like	849					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			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						TATTTACTTTCTTAGCATTGA	0.363000													5	60					0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56345835	56345835	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:56345835C>T	ENST00000309964.4	-	4	329	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	CLOCK_ENST00000381322.1_Missense_Mutation_p.E27K|CLOCK_ENST00000506923.1_5'UTR|CLOCK_ENST00000513440.1_Missense_Mutation_p.E27K	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	27					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TCATCTTCTTCCACCAACCCA	0.313000													4	22					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121442140	121442140	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:121442140C>T	ENST00000445832.3	-	6	617	c.515G>A	c.(514-516)aGt>aAt	p.S172N	C12orf43_ENST00000288757.3_Missense_Mutation_p.S202N|C12orf43_ENST00000537817.1_Missense_Mutation_p.S203N|C12orf43_ENST00000536407.2_Intron|C12orf43_ENST00000366211.2_Missense_Mutation_p.S161N|C12orf43_ENST00000539736.1_Missense_Mutation_p.S192N			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	202										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAGTCGACACTGGCCACCTT	0.572000													6	159					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86344253	86344253	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:86344253C>G	ENST00000254630.7	+	6	451	c.385C>G	c.(385-387)Cag>Gag	p.Q129E	PTCD3_ENST00000409277.3_Missense_Mutation_p.Q129E|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	129						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CAAATATTTTCAGAAGGACAT	0.313000													9	31					0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210411400	210411400	+	Missense_Mutation	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:210411400A>T	ENST00000367012.3	+	2	325	c.95A>T	c.(94-96)gAc>gTc	p.D32V	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	32							protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGGGAGGCTGACAGCTACGGA	0.587000													17	84					0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31583119	31583119	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:31583119G>C	ENST00000326132.6	+	2	198	c.39G>C	c.(37-39)gaG>gaC	p.E13D	RNF185_ENST00000266252.7_Missense_Mutation_p.E13D|RNF185_ENST00000426256.2_5'UTR	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185							integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						CATCTCCTGAGAACTCCAGTG	0.597000													17	117					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109192814	109192814	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:109192814C>A	ENST00000326495.5	-	13	1404	c.1311G>T	c.(1309-1311)atG>atT	p.M437I	SSH1_ENST00000326470.5_Missense_Mutation_p.M448I|SSH1_ENST00000360239.3_Missense_Mutation_p.M125I|SSH1_ENST00000551165.1_Missense_Mutation_p.M437I	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	437	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGCTGCCTCATAAAGCCCG	0.552000													5	92					0.0215528	0.0218458	1	1	0
VAV1	7409	broad.mit.edu	37	19	6854018	6854018	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:6854018G>A	ENST00000304076.2	+	25	2421	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	VAV1_ENST00000602142.1_Missense_Mutation_p.R798Q|VAV1_ENST00000599806.1_Missense_Mutation_p.R743Q|VAV1_ENST00000539284.1_Missense_Mutation_p.R701Q|VAV1_ENST00000596764.1_Missense_Mutation_p.R766Q	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	798					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R798Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCCCGAGACCGATCAGAGCTG	0.552000													14	116					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111890642	111890642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:111890642G>A	ENST00000377617.3	-	25	4077	c.3916C>T	c.(3916-3918)Caa>Taa	p.Q1306*	ATXN2_ENST00000535949.1_Nonsense_Mutation_p.Q999*|ATXN2_ENST00000608853.1_Nonsense_Mutation_p.Q1146*|ATXN2_ENST00000389153.4_Nonsense_Mutation_p.Q1043*|ATXN2_ENST00000542287.2_Nonsense_Mutation_p.Q1066*|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1306					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGTGGGCTTGTACTGTAAAA	0.473000													4	89					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27664002	27664002	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27664002G>A	ENST00000233557.3	+	16	2170	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	NRBP1_ENST00000379852.3_Silent_p.L446L|NRBP1_ENST00000379863.3_Silent_p.L454L			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	446					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					AGGTGGTGCTGATGCAGTGCA	0.547000													34	327					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46956731	46956731	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:46956731G>A	ENST00000269445.6	-	2	491	c.34C>T	c.(34-36)Cct>Tct	p.P12S	DYM_ENST00000442713.2_Missense_Mutation_p.P12S|DYM_ENST00000584977.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	12						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TCATTTTTAGGAAGATCGCCG	0.388000													5	43					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39250242	39250242	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:39250242C>T	ENST00000426016.1	-	11	1413	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	SOS1_ENST00000472480.1_5'UTR|SOS1_ENST00000395038.2_Missense_Mutation_p.E443K|SOS1_ENST00000402219.2_Missense_Mutation_p.E443K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	443					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATTATAAATTCATTACAACAC	0.373000									Noonan syndrome				5	112					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27686747	27686747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:27686747C>A	ENST00000493901.1	-	17	2406	c.2167G>T	c.(2167-2169)Gag>Tag	p.E723*	MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.E715*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.E723*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	723	Protein kinase.				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GGCACTTCCTCCATGAAGATC	0.582000													7	108					0.000157383	0.000164971	1	1	0
MMAB	326625	broad.mit.edu	37	12	110006615	110006615	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:110006615C>G	ENST00000545712.2	-	3	643	c.250G>C	c.(250-252)Gaa>Caa	p.E84Q	MMAB_ENST00000540016.1_Intron|MMAB_ENST00000266839.5_5'UTR	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	84					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCACGGCTTCAAACACTTGG	0.428000													16	71					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129794391	129794391	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:129794391C>G	ENST00000421865.2	+	52	7382	c.7333C>G	c.(7333-7335)Cag>Gag	p.Q2445E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2445	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGATACTAATCAGGAGGAGAA	0.333000													3	31					0	0	1	0	0
CLHC1	130162	broad.mit.edu	37	2	55433460	55433460	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:55433460C>A	ENST00000401408.1	-	9	1297	c.952G>T	c.(952-954)Gca>Tca	p.A318S	CLHC1_ENST00000494539.1_Intron|CLHC1_ENST00000406076.1_Missense_Mutation_p.A196S|CLHC1_ENST00000407122.1_Missense_Mutation_p.A318S|CLHC1_ENST00000406437.2_Intron	NM_152385.2	NP_689598.2			clathrin heavy chain linker domain containing 1																		GGACTGTTTGCTGCATAACAA	0.313000													10	32					1.76689e-08	1.92718e-08	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107580591	107580591	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:107580591C>G	ENST00000393561.1	-	23	3860	c.3676G>C	c.(3676-3678)Gag>Cag	p.E1226Q	LAMB1_ENST00000222399.6_Missense_Mutation_p.E1202Q			P07942	LAMB1_HUMAN	laminin, beta 1	1202	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGGCTTTCTCCAGGAATCTG	0.552000													9	130					0	0	1	0	0
ZNF367	195828	broad.mit.edu	37	9	99157222	99157222	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:99157222C>T	ENST00000375256.4	-	3	870	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	192					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				TAGGGCCTCTCACCTAAGTAG	0.448000													7	43					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102489156	102489156	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:102489156C>T	ENST00000360184.4	+	43	8740	c.8576C>T	c.(8575-8577)cCt>cTt	p.P2859L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2859					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGCACTTCCCTAACATCGAC	0.483000													7	75					0	0	1	0	0
SHISA5	51246	broad.mit.edu	37	3	48511165	48511165	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:48511165G>C	ENST00000296444.2	-	4	728	c.392C>G	c.(391-393)tCc>tGc	p.S131C	SHISA5_ENST00000443308.2_Missense_Mutation_p.S124C|SHISA5_ENST00000444115.1_Missense_Mutation_p.S100C|SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000442747.1_Missense_Mutation_p.S100C|SHISA5_ENST00000426002.1_Missense_Mutation_p.S28C	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	131					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						GCAGCAGCAGGAGCAGGTGAA	0.607000													7	41					0	0	1	0	0
PEX19	5824	broad.mit.edu	37	1	160249892	160249892	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:160249892G>A	ENST00000368072.5	-	6	760	c.739C>T	c.(739-741)Cgt>Tgt	p.R247C	DCAF8_ENST00000608310.1_Missense_Mutation_p.R100C|DCAF8_ENST00000556710.1_Missense_Mutation_p.R100C|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_Missense_Mutation_p.R157C	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1			peroxisomal biogenesis factor 19											cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATCTCAAAACGAGCCTTTTGA	0.493000													14	423					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100531442	100531442	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:100531442C>G	ENST00000372907.3	-	10	1035	c.1024G>C	c.(1024-1026)Gat>Cat	p.D342H	TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.D256H|TAF7L_ENST00000372905.2_Intron	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	342	Glu-rich.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						tcatcctcatcttcatcatcc	0.418000													16	37					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236714217	236714217	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:236714217G>C	ENST00000366582.3	-	45	6534	c.6420C>G	c.(6418-6420)ctC>ctG	p.L2140L	LGALS8_ENST00000366584.4_3'UTR|LGALS8_ENST00000526589.1_3'UTR|HEATR1_ENST00000366581.2_Silent_p.L2059L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	2140					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AATAGCTCTGGAGTGGCTCTC	0.353000													6	58					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127953306	127953306	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:127953306C>G	ENST00000223073.2	-	18	2181	c.2067G>C	c.(2065-2067)gtG>gtC	p.V689V	RBM28_ENST00000415472.2_Silent_p.V548V|RBM28_ENST00000481788.1_5'UTR	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28						mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GGACGGGCTTCACTTTGCCTT	0.493000													38	91					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137790	32137790	+	Missense_Mutation	SNP	G	G	A	rs142193425	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:32137790G>A	ENST00000312561.4	+	4	4315	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551																		GAGGTTTCACGAGGTAACCTT	0.373000													21	75					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364298	10364298	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:10364298C>G	ENST00000377093.4	+	21	3208	c.3055C>G	c.(3055-3057)Cca>Gca	p.P1019A	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.P1019A|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCCCCAGTTTCCATGGGGCTC	0.433000													18	162					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306934	61306934	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:61306934G>C	ENST00000341074.5	-	6	661	c.546C>G	c.(544-546)ttC>ttG	p.F182L	SERPINB4_ENST00000356424.6_Missense_Mutation_p.F182L	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTGCCCTTTGAAATAGATTG	0.308000													5	41					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35047971	35047971	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:35047971C>T	ENST00000231420.6	-	1	227	c.27G>A	c.(25-27)ctG>ctA	p.L9L		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	9					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	ACAAGGGTCTCAGCAAATGTC	0.547000													6	69					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64366309	64366309	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:64366309G>C	ENST00000377574.1	+	6	1731	c.984G>C	c.(982-984)ctG>ctC	p.L328L	SLC22A12_ENST00000377567.2_Silent_p.L220L|SLC22A12_ENST00000336464.7_Silent_p.L294L|SLC22A12_ENST00000473690.1_Silent_p.L107L|SLC22A12_ENST00000377572.1_Silent_p.L220L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	328			Missing (affects urate transport).		cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGGAGGAGCTGAGCATGGGCC	0.657000													5	50					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981518	64981518	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:64981518G>A	ENST00000525437.1	+	0	208							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CAACCACACTGAGGCCTCCAC	0.701000													10	5					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70926736	70926736	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:70926736C>T	ENST00000357250.6	-	38	2788	c.2630G>A	c.(2629-2631)cGa>cAa	p.R877Q	COL9A1_ENST00000320755.7_Missense_Mutation_p.R634Q|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.R634Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	877	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGGGGGCCTCGCTCACCGTC	0.607000													10	23					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197771	24197771	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:24197771C>T	ENST00000379177.1	+	6	957	c.530C>T	c.(529-531)tCa>tTa	p.S177L	ZFX_ENST00000338565.3_Missense_Mutation_p.S177L|ZFX_ENST00000379188.3_Missense_Mutation_p.S177L|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000304543.5_Missense_Mutation_p.S177L|ZFX_ENST00000540034.1_Missense_Mutation_p.S216L	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GACGTAGTTTCAGAAGAAGTA	0.468000													65	141					0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113742422	113742422	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:113742422G>A	ENST00000259205.4	+	5	375	c.306G>A	c.(304-306)caG>caA	p.Q102Q	IL36G_ENST00000376489.2_Silent_p.Q67Q	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	102					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TTCAGGAGCAGAAGATCATGG	0.448000													6	118					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658103	50658103	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:50658103C>G	ENST00000439308.2	-	18	4836	c.4344G>C	c.(4342-4344)tgG>tgC	p.W1448C	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.E1429Q	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	0					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGGTACCGCTCCAAGTGGTAC	0.677000													7	95					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9620725	9620725	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:9620725G>C	ENST00000310430.6	+	22	3369	c.3343G>C	c.(3343-3345)Gat>Cat	p.D1115H	TNKS_ENST00000518281.1_Missense_Mutation_p.D878H	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1115	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TGCTCCAGAAGATAAAGAATA	0.338000													9	36					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33465266	33465266	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:33465266C>T	ENST00000379471.2	-	20	2707	c.2620G>A	c.(2620-2622)Gag>Aag	p.E874K	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.E822K			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	874					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TCCAGGCTCTCATCAGCGAAA	0.612000													3	7					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177017631	177017631	+	Translation_Start_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:177017631G>A	ENST00000468418.3	+	0	1872				HOXD4_ENST00000306324.3_Silent_p.P243P			P31249	HXD3_HUMAN	homeobox D3						anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		ATTTACAGCCGATGGCCAAAG	0.582000													15	107					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24415587	24415587	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:24415587G>C	ENST00000382172.3	-	11	1245	c.1147C>G	c.(1147-1149)Ctt>Gtt	p.L383V		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	383					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CATGCTCCAAGAGAGAAAAAC	0.413000													5	83					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109210864	109210864	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:109210864C>G	ENST00000326495.5	-	5	444	c.351G>C	c.(349-351)caG>caC	p.Q117H	SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Missense_Mutation_p.Q128H|SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Missense_Mutation_p.Q117H	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	117					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTCGGTGTCCTGGCGCCCGC	0.592000													27	132					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562149	140562149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140562149G>A	ENST00000361016.2	+	1	1170	c.15G>A	c.(13-15)tgG>tgA	p.W5*		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		5					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATTGGATGGATGCACAATC	0.463000													48	57					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	58999681	58999681	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:58999681G>A	ENST00000371226.3	-	5	1068	c.955C>T	c.(955-957)Cat>Tat	p.H319Y	OMA1_ENST00000358603.2_Missense_Mutation_p.H319Y|DAB1_ENST00000485760.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	319					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	p.H319D(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GAAAGTTGATGAATATCGGTT	0.338000													16	203					0	0	1	0	0
PMEL	6490	broad.mit.edu	37	12	56355414	56355414	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:56355414C>T	ENST00000548747.1	-	2	841	c.179G>A	c.(178-180)tGc>tAc	p.C60Y	PMEL_ENST00000548493.1_Missense_Mutation_p.C60Y|PMEL_ENST00000360714.4_Missense_Mutation_p.C60Y|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000449260.2_Missense_Mutation_p.C60Y|PMEL_ENST00000550464.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.C60Y|PMEL_ENST00000536427.1_Missense_Mutation_p.C60Y|PMEL_ENST00000550447.1_Intron			P40967	PMEL_HUMAN	premelanosome protein	60					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACCTCTCCAGCAGTCAAGTCT	0.532000													11	155					0	0	1	0	0
ELL3	80237	broad.mit.edu	37	15	44067991	44067991	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:44067991C>G	ENST00000319359.3	-	4	1053	c.412G>C	c.(412-414)Gag>Cag	p.E138Q	RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	138					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		TGCCAACTCTCAGGATGTCTG	0.527000											OREG0023092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	92					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548332	4548332	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:4548332G>C	ENST00000586582.1	-	13	1707	c.1397C>G	c.(1396-1398)tCa>tGa	p.S466*	SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.S466*|SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.S466*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	466	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACGTCCCTGAGGTGCTGGC	0.652000													9	69					0	0	1	0	0
BLOC1S1	2647	broad.mit.edu	37	12	56113062	56113062	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:56113062C>G	ENST00000549147.1	+	3	420	c.406C>G	c.(406-408)Cca>Gca	p.P136A	BLOC1S1_ENST00000551926.1_Missense_Mutation_p.P58A|BLOC1S1_ENST00000257899.2_Intron|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000547076.1_Intron|BLOC1S1_ENST00000548556.1_Intron|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548925.1_Intron			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	0					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						TTGGCTGCCTCCAGTCAGGTT	0.532000													10	43					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713798	70713798	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:70713798C>G	ENST00000530196.1	-	0	720					NR_003951.1																						GGTTCCAGAGCTGAGTTCTCA	0.433000													4	59					0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42274724	42274724	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:42274724G>T	ENST00000389384.4	-	3	536	c.228C>A	c.(226-228)ttC>ttA	p.F76L	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.F76L	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	76					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCACTGGTTGAAAACCTGTC	0.592000													21	178					1.50039e-11	1.65869e-11	1	1	0
CUEDC1	404093	broad.mit.edu	37	17	55962592	55962592	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:55962592C>A	ENST00000577830.1	-	2	747	c.334G>T	c.(334-336)Gag>Tag	p.E112*	CUEDC1_ENST00000360238.2_Nonsense_Mutation_p.E112*|CUEDC1_ENST00000407144.2_Nonsense_Mutation_p.E112*|CUEDC1_ENST00000577840.1_Intron	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	112	Pro-rich.									endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GCCCCTACCTCCGGGGGGATG	0.667000													47	122					9.86064e-34	1.11708e-33	1	1	0
FAM193A	8603	broad.mit.edu	37	4	2664878	2664878	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:2664878G>T	ENST00000324666.5	+	10	1420	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	FAM193A_ENST00000545951.1_Missense_Mutation_p.D357Y|FAM193A_ENST00000502458.1_Missense_Mutation_p.D379Y|FAM193A_ENST00000382839.3_Missense_Mutation_p.D357Y|FAM193A_ENST00000505311.1_Missense_Mutation_p.D357Y	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	357										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTCAGAAGCTGATGATGAAGA	0.478000													33	123					6.50621e-10	7.15026e-10	1	1	0
LARS	51520	broad.mit.edu	37	5	145547729	145547729	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:145547729C>G	ENST00000394434.2	-	5	560	c.394G>C	c.(394-396)Gaa>Caa	p.E132Q	LARS_ENST00000274562.9_Missense_Mutation_p.E105Q|LARS_ENST00000545646.1_Intron|LARS_ENST00000511505.1_Intron|LARS_ENST00000510191.1_Missense_Mutation_p.E78Q	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	132					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATTATATCTTCTGTTTTAACA	0.333000													5	44					0	0	1	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932374	41932374	+	Missense_Mutation	SNP	C	C	T	rs78273804		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41932374C>T	ENST00000321702.2	-	3	763	c.310G>A	c.(310-312)Gag>Aag	p.E104K	B3GNT8_ENST00000601379.1_Intron	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	104					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						TCAGGGATCTCGGTGGCGGCG	0.687000													7	106					0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102551248	102551248	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:102551248C>A	ENST00000334701.7	-	6	1398	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	HSP90AA1_ENST00000441629.2_Nonsense_Mutation_p.E72*|HSP90AA1_ENST00000216281.8_Nonsense_Mutation_p.E251*	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	251					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCTTCCGACtctttctcttct	0.363000													7	12					0.248553	0.24903	1	1	0
KRT1	3848	broad.mit.edu	37	12	53072416	53072416	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53072416C>T	ENST00000252244.3	-	2	774	c.716G>A	c.(715-717)cGa>cAa	p.R239Q		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	239	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CACTCTCCTTCGGAGATTGTT	0.473000													5	98					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518381	41518381	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41518381C>G	ENST00000324071.4	+	7	1150	c.1143C>G	c.(1141-1143)atC>atG	p.I381M	CYP2B6_ENST00000593831.1_Missense_Mutation_p.I145M|CYP2B6_ENST00000330446.5_Missense_Mutation_p.I181M	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	381					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGGGTACATCATCCCCAAGG	0.512000													5	105					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22205151	22205151	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:22205151G>C	ENST00000374695.3	-	19	2556	c.2477C>G	c.(2476-2478)tCa>tGa	p.S826*		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	826	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAAGTGTCTGAGAATCTGCA	0.607000													4	53					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364526	10364526	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:10364526C>G	ENST00000377093.4	+	21	3436	c.3283C>G	c.(3283-3285)Caa>Gaa	p.Q1095E	KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Q1095E|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCATATTCATCAACACCGTCA	0.512000													4	88					0	0	1	0	0
STXBP4	252983	broad.mit.edu	37	17	53084927	53084927	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:53084927C>G	ENST00000376352.2	+	8	842	c.635C>G	c.(634-636)tCt>tGt	p.S212C	STXBP4_ENST00000398391.2_Missense_Mutation_p.S137C|STXBP4_ENST00000405898.1_Missense_Mutation_p.S212C|STXBP4_ENST00000299341.4_Missense_Mutation_p.S137C|STXBP4_ENST00000434978.2_Missense_Mutation_p.S212C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	212						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						CTAAATCCCTCTGTTCGCTTT	0.363000													17	407					0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44560878	44560878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:44560878G>T	ENST00000332567.4	-	1	1110	c.758C>A	c.(757-759)tCa>tAa	p.S253*	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	253					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCCCCGCATGATTTCTCCCT	0.582000													6	50					0.00116845	0.00120541	1	1	0
CCDC180	100499483	broad.mit.edu	37	9	100128892	100128892	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:100128892G>C	ENST00000375202.2	+	45	5583	c.4231G>C	c.(4231-4233)Gac>Cac	p.D1411H	CCDC180_ENST00000529487.1_Missense_Mutation_p.D1411H|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000357054.1_Missense_Mutation_p.D1356H					coiled-coil domain containing 180																		CTGCATGTGTGACACCTTTGA	0.522000													6	60					0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20156897	20156897	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:20156897C>T	ENST00000395530.2	+	8	2643	c.2435C>T	c.(2434-2436)tCa>tTa	p.S812L	SPECC1_ENST00000536879.1_Missense_Mutation_p.S233L|SPECC1_ENST00000261503.5_Missense_Mutation_p.S893L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.S893L	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	893						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CTTCCCCTCTCAGGTAAATTA	0.448000													7	20					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449948	158449948	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:158449948C>G	ENST00000368152.1	+	1	281	c.281C>G	c.(280-282)aCc>aGc	p.T94S	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACCTTCTACACCTTTGTCATT	0.433000													7	337					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19375542	19375542	+	Silent	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:19375542A>C	ENST00000389363.4	-	10	1137	c.1065T>G	c.(1063-1065)ctT>ctG	p.L355L	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	355						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			CGGGCCACTGAAGGCAACGGT	0.622000													15	77					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57484374	57484374	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:57484374G>C	ENST00000267811.5	+	7	713	c.409G>C	c.(409-411)Gat>Cat	p.D137H	TCF12_ENST00000452095.2_Missense_Mutation_p.D133H|TCF12_ENST00000438423.2_Missense_Mutation_p.D137H|TCF12_ENST00000557843.1_Missense_Mutation_p.D137H|TCF12_ENST00000333725.5_Missense_Mutation_p.D137H	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	137	Leucine-zipper.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCTGAGACAAGATCTGGGGCT	0.433000			T	TEC	extraskeletal myxoid chondrosarcoma								4	34					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43805639	43805639	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:43805639C>G	ENST00000372470.3	+	5	737	c.695C>G	c.(694-696)tCa>tGa	p.S232*	MPL_ENST00000413998.2_Nonsense_Mutation_p.S232*	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	232					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity	p.S232*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCAAGGCTTCAGCTCTGACA	0.562000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						24	100					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275759	54275759	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:54275759G>C	ENST00000354646.2	-	17	3460	c.3022C>G	c.(3022-3024)Cac>Gac	p.H1008D	WNK3_ENST00000375169.3_Missense_Mutation_p.H1008D|WNK3_ENST00000375159.2_Missense_Mutation_p.H1008D	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1008					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GCAGTTTGGTGACATGGATAC	0.448000													5	70					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75301492	75301492	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:75301492G>T	ENST00000339859.4	-	7	677	c.577C>A	c.(577-579)Cag>Aag	p.Q193K	USP54_ENST00000408019.1_Missense_Mutation_p.Q193K|USP54_ENST00000428547.1_Intron|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.Q193K			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	193					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CAAATAGCCTGATTGCTTCAA	0.438000													4	18					1	1	1	1	0
TMEM176B	28959	broad.mit.edu	37	7	150488659	150488659	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:150488659G>A	ENST00000447204.2	-	7	1145	c.773C>T	c.(772-774)tCg>tTg	p.S258L	TMEM176B_ENST00000450753.2_Missense_Mutation_p.S221L|TMEM176B_ENST00000492607.1_Missense_Mutation_p.S258L|TMEM176B_ENST00000326442.5_Missense_Mutation_p.S258L|TMEM176B_ENST00000434545.1_Missense_Mutation_p.S258L|TMEM176B_ENST00000429904.2_Missense_Mutation_p.S258L	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	258					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTAGAGGGCGAAGGGGGCAC	0.562000													9	43					0	0	1	0	0
CDC42SE1	56882	broad.mit.edu	37	1	151027536	151027536	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:151027536G>C	ENST00000439374.2	-	6	1005	c.121C>G	c.(121-123)Cac>Gac	p.H41D	CDC42SE1_ENST00000540998.1_Missense_Mutation_p.H41D|CDC42SE1_ENST00000492796.1_5'UTR|CDC42SE1_ENST00000357235.5_Missense_Mutation_p.H41D			Q9NRR8	C42S1_HUMAN	CDC42 small effector 1	41	CRIB.				phagocytosis|regulation of cell shape|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase inhibitor activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGCCAATGTGAGTCAGGTGA	0.498000													33	212					0	0	1	0	0
ZNF738	148203	broad.mit.edu	37	19	21558699	21558699	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:21558699C>T	ENST00000311015.3	+	4	463	c.252C>T	c.(250-252)atC>atT	p.I84I	ZNF738_ENST00000380870.4_Silent_p.I84I|ZNF738_ENST00000597810.1_Silent_p.I84I																kidney(1)|lung(1)	2						CAGATCTGATCACCTGTCTGG	0.383000													12	35					0	0	1	0	0
SLC16A5	9121	broad.mit.edu	37	17	73089821	73089821	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:73089821C>A	ENST00000450736.2	+	2	505	c.90C>A	c.(88-90)ttC>ttA	p.F30L	SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000580123.1_Missense_Mutation_p.F30L|SLC16A5_ENST00000538213.2_Missense_Mutation_p.F70L|SLC16A5_ENST00000329783.4_Missense_Mutation_p.F30L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	30					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.F30F(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CCCTGGGCTTCCCCACGTGTA	0.637000													18	169					3.51602e-12	3.90353e-12	1	1	0
GIPR	2696	broad.mit.edu	37	19	46177433	46177433	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:46177433C>T	ENST00000590918.1	+	6	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F	GIPR_ENST00000263281.3_Silent_p.F162F|GIPR_ENST00000304207.8_Silent_p.F126F	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	162					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TGAGTTTGTTCAGGTGGGACC	0.557000													12	171					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28268591	28268591	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:28268591G>C	ENST00000344773.2	+	6	633		c.e6-1		BRE_ENST00000342045.2_Splice_Site|BRE_ENST00000379632.2_Splice_Site|BRE_ENST00000379624.1_Splice_Site|BRE_ENST00000361704.2_Splice_Site	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)						apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TCTTTTTACAGACTGGTGAAT	0.338000													3	10					0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6413549	6413549	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:6413549C>G	ENST00000276893.5	+	1	227	c.59C>G	c.(58-60)tCt>tGt	p.S20C	UHRF2_ENST00000381373.3_Missense_Mutation_p.S20C	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	20	Ubiquitin-like.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GAGGACGTGTCTCGCAAAGCC	0.622000													7	68					0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44174875	44174875	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:44174875G>C	ENST00000260665.7	-	19	2017	c.1960C>G	c.(1960-1962)Caa>Gaa	p.Q654E		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	654					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTACTTTTTGAAAGTCTAAA	0.303000													3	19					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536286	1536286	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:1536286C>T	ENST00000447419.2	-	3	1116	c.1091G>A	c.(1090-1092)tGt>tAt	p.C364Y	PTX4_ENST00000293922.1_Missense_Mutation_p.C359Y|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	364	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGATGACACAGATGTGGTG	0.667000													4	40					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2202364	2202364	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:2202364G>C	ENST00000544865.1	-	2	2100	c.1590C>G	c.(1588-1590)acC>acG	p.T530T	SMG6_ENST00000263073.6_Silent_p.T561T			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	561					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCATGGTGCTGGTAGGTAGAG	0.587000													16	357					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171510558	171510558	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:171510558G>T	ENST00000367742.3	+	16	4195	c.3953G>T	c.(3952-3954)aGa>aTa	p.R1318I	PRRC2C_ENST00000338920.4_Missense_Mutation_p.R1316I|PRRC2C_ENST00000426496.2_Missense_Mutation_p.R1316I|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R1318I			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	1316							protein C-terminus binding										ATAGATAATAGACTGCTAGAA	0.423000													7	77					8.12818e-05	8.54753e-05	1	1	0
DHX15	1665	broad.mit.edu	37	4	24578142	24578142	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:24578142C>G	ENST00000336812.4	-	2	387	c.231G>C	c.(229-231)ttG>ttC	p.L77F		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	77					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GGGAAGCTTTCAAAGGTGGTA	0.478000													7	126					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32678173	32678173	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:32678173G>C	ENST00000409358.1	+	5	610	c.610G>C	c.(610-612)Gag>Cag	p.E204Q		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	204	Doublecortin 2.				intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGGAGAGGATGAGTTCAAGGA	0.612000													7	64					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90372687	90372687	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:90372687C>G	ENST00000369393.3	-	86	14352		c.e86-1		MDN1_ENST00000428876.1_Splice_Site			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)						protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCATCCTCTTCTGAAAGGGAA	0.512000													4	45					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672142	186672142	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:186672142G>A	ENST00000343098.5	+	17	18376	c.18376G>A	c.(18376-18378)Gag>Aag	p.E6126K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6037K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAGAACCTGAGGACAATTT	0.318000													11	78					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52255078	52255078	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:52255078C>T	ENST00000354831.7	-	33	3679	c.3490G>A	c.(3490-3492)Gaa>Aaa	p.E1164K	NRD1_ENST00000539524.1_Missense_Mutation_p.E1032K|NRD1_ENST00000352171.7_Missense_Mutation_p.E1096K|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	1095					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CCATCCTCTTCCAGTTCATAC	0.428000													8	82					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81528618	81528618	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:81528618G>C	ENST00000548058.1	+	3	1390	c.480G>C	c.(478-480)ttG>ttC	p.L160F	ACSS3_ENST00000261206.3_Missense_Mutation_p.L159F			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	160						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGGTGTCTTGGTCAAGCATG	0.418000													4	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598223	179598223	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:179598223C>T	ENST00000589042.1	-	54	16021	c.15797G>A	c.(15796-15798)cGa>cAa	p.R5266Q	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R4949Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R4022Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000582847.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4949	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4022L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTCTGCTCGCTCAATGAT	0.448000													50	85					0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113541344	113541344	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:113541344C>T	ENST00000505019.1	-	5	290	c.165G>A	c.(163-165)gtG>gtA	p.V55V	C4orf21_ENST00000445203.2_Silent_p.V24V|C4orf21_ENST00000309071.5_Silent_p.V55V	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	55										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTCCAGGTTTCACCTGAAAGA	0.348000													19	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596040	179596040	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:179596040G>A	ENST00000589042.1	-	59	17677	c.17453C>T	c.(17452-17454)tCa>tTa	p.S5818L	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5501L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S4574L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5501	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTTACTGAGAGTAATGC	0.433000													11	226					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121721598	121721598	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:121721598C>G	ENST00000393376.1	-	19	2331	c.2236G>C	c.(2236-2238)Gaa>Caa	p.E746Q	AASS_ENST00000417368.2_Missense_Mutation_p.E746Q|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	746	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAAGCGCTTCTCTGTTTATA	0.373000													6	120					0	0	1	0	0
NNMT	4837	broad.mit.edu	37	11	114182806	114182806	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:114182806G>A	ENST00000535401.1	+	5	666	c.402G>A	c.(400-402)gcG>gcA	p.A134A	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Silent_p.A134A|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000542647.1_5'UTR			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	134					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TGAGACAGGCGGTCAAGCAGG	0.557000													5	109					0	0	1	0	0
FZD6	8323	broad.mit.edu	37	8	104337379	104337379	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:104337379G>A	ENST00000358755.4	+	4	1362	c.1045G>A	c.(1045-1047)Gaa>Aaa	p.E349K	FZD6_ENST00000540287.1_Missense_Mutation_p.E44K|FZD6_ENST00000523739.1_Missense_Mutation_p.E317K|FZD6_ENST00000522566.1_Missense_Mutation_p.E349K	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	349					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GAACAAAGTTGAAGGAGACAA	0.453000													8	168					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316701	78316701	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:78316701G>A	ENST00000409931.3	-	6	1338	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	TBC1D2B_ENST00000300584.3_Nonsense_Mutation_p.Q423*			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	423						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						ACTTCCTGCTGAAGACTCTCC	0.542000													14	92					0	0	1	0	0
HORMAD1	84072	broad.mit.edu	37	1	150689682	150689682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:150689682G>T	ENST00000368993.2	-	3	215	c.110C>A	c.(109-111)tCa>tAa	p.S37*	HORMAD1_ENST00000361824.2_Nonsense_Mutation_p.S37*|HORMAD1_ENST00000368995.4_5'UTR|HORMAD1_ENST00000322343.7_Nonsense_Mutation_p.S37*|HORMAD1_ENST00000476530.1_5'UTR			Q86X24	HORM1_HUMAN	HORMA domain containing 1	37	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACAGGATACTGAAACTGCTAG	0.358000													13	193					4.3838e-07	4.73596e-07	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96948957	96948957	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:96948957C>G	ENST00000323853.5	-	34	4974	c.4897G>C	c.(4897-4899)Gag>Cag	p.E1633Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1633	Helicase C-terminal 2.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AAGAGCTGCTCCACCAGGCGT	0.582000													16	142					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69003926	69003926	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:69003926G>T	ENST00000543950.1	+	5	868	c.514G>T	c.(514-516)Gac>Tac	p.D172Y	CORO2B_ENST00000261861.5_Missense_Mutation_p.D172Y|CORO2B_ENST00000540068.1_Missense_Mutation_p.D172Y|CORO2B_ENST00000566799.1_Missense_Mutation_p.D177Y	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	177					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GAAGATGATTGACTGCCACAC	0.602000													11	27					3.07112e-06	3.29463e-06	1	1	0
ASIC4	55515	broad.mit.edu	37	2	220396823	220396823	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:220396823G>A	ENST00000358078.4	+	3	1223	c.1209G>A	c.(1207-1209)caG>caA	p.Q403Q	ASIC4_ENST00000473709.1_3'UTR|ASIC4_ENST00000347842.3_Silent_p.Q403Q			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	403						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CAGGCTTCCAGACCTTTGTGT	0.617000													7	99					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41766572	41766572	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:41766572C>G	ENST00000379483.3	-	1	2130	c.1822G>C	c.(1822-1824)Gac>Cac	p.D608H		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	608							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AAGCCAGAGTCAAACTGCAAA	0.428000													13	63					0	0	1	0	0
ZNF121	7675	broad.mit.edu	37	19	9676899	9676899	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9676899G>C	ENST00000586602.1	-	6	1306	c.890C>G	c.(889-891)tCa>tGa	p.S297*	ZNF121_ENST00000320451.6_Nonsense_Mutation_p.S297*			P58317	ZN121_HUMAN	zinc finger protein 121	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						ATGTAAGCTTGAGGAAACAGT	0.383000													15	77					0	0	1	0	0
SRPK2	6733	broad.mit.edu	37	7	104782878	104782878	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:104782878C>T	ENST00000357311.3	-	10	1258	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	SRPK2_ENST00000489828.1_Missense_Mutation_p.E363K|SRPK2_ENST00000393651.3_Missense_Mutation_p.E374K	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	363	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ACATCATCTTCATCTTTTTCA	0.403000													5	97					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137729235	137729235	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:137729235G>C	ENST00000183605.5	+	1	394	c.168G>C	c.(166-168)caG>caC	p.Q56H	CLDN18_ENST00000343735.4_Intron	NM_016369.3	NP_057453.1	P56856	CLD18_HUMAN	claudin 18	56					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCGTGAGGCAGAGTTCAGGCT	0.622000													7	58					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910636	21910636	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:21910636C>T	ENST00000358296.6	-	5	676	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	ZNF100_ENST00000305570.6_Missense_Mutation_p.E96K	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTATCATGTTCTTTGTGCACT	0.313000													13	95					0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27663790	27663790	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27663790G>A	ENST00000233557.3	+	15	2144	c.1312G>A	c.(1312-1314)Gag>Aag	p.E438K	NRBP1_ENST00000379852.3_Missense_Mutation_p.E438K|NRBP1_ENST00000379863.3_Missense_Mutation_p.E446K			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	438					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGAACCAGCTGAGGTGGAGAC	0.587000													6	97					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86292828	86292828	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:86292828C>T	ENST00000376395.4	-	6	1442	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	UBQLN1_ENST00000257468.7_Missense_Mutation_p.E307K	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	307					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TGACTACCTTCACCAGAGGAT	0.418000													4	45					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158630581	158630581	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:158630581C>T	ENST00000424310.2	-	2	404	c.45G>A	c.(43-45)ctG>ctA	p.L15L	RNF145_ENST00000518802.1_Silent_p.L45L|RNF145_ENST00000274542.2_Silent_p.L43L|RNF145_ENST00000521606.2_Silent_p.L32L|RNF145_ENST00000520638.1_Silent_p.L29L|RNF145_ENST00000519865.1_Silent_p.L15L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	15						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGGCACCCTCAGGGCCACAT	0.413000													9	92					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62740571	62740571	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:62740571G>C	ENST00000371153.4	-	3	583	c.205C>G	c.(205-207)Ctg>Gtg	p.L69V	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	69										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						TTTCGGGGCAGAGTGCTAAAT	0.557000													6	311					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923159	159923159	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:159923159G>C	ENST00000368093.3	-	2	447	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	SLAMF9_ENST00000466773.1_Intron|SLAMF9_ENST00000368092.3_Missense_Mutation_p.Q111E	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	111						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGTTGACTTGAGCTTGGTAA	0.507000													14	139					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39648642	39648642	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:39648642G>C	ENST00000216832.4	+	8	836	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	257	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAAACTAATAGAAGAGTCACA	0.338000													3	43					0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404909	134404909	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:134404909C>G	ENST00000372215.4	-	3	424	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	UCK1_ENST00000372211.3_Missense_Mutation_p.E116Q|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Missense_Mutation_p.E102Q|UCK1_ENST00000372208.3_Missense_Mutation_p.E111Q	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	111					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GTCGGCACCTCCACCGTTTTG	0.552000													7	137					0	0	1	0	0
SIMC1	375484	broad.mit.edu	37	5	175772436	175772436	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:175772436G>C	ENST00000443967.1	+	12	3014	c.2607G>C	c.(2605-2607)tgG>tgC	p.W869C	SIMC1_ENST00000332772.4_Missense_Mutation_p.W330C|SIMC1_ENST00000430704.2_Missense_Mutation_p.W454C|SIMC1_ENST00000341199.6_Missense_Mutation_p.W454C					SUMO-interacting motifs containing 1																		AAAAGGGCTGGAGCGGCTCCT	0.507000													5	42					0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62393624	62393624	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62393624C>G	ENST00000346178.4	-	24	2719	c.2704G>C	c.(2704-2706)Gaa>Caa	p.E902Q	GANAB_ENST00000540933.1_Missense_Mutation_p.E783Q|GANAB_ENST00000534779.1_Missense_Mutation_p.E788Q|GANAB_ENST00000356638.3_Missense_Mutation_p.E880Q	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	880					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AAGTGTCCTTCAGGGTCTGCT	0.493000													10	212					0	0	1	0	0
CGRRF1	10668	broad.mit.edu	37	14	55004835	55004835	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:55004835G>A	ENST00000216420.7	+	6	865	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	245					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						TTCCTCTTCAGAAGAAAAAAA	0.343000													9	54					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145611	107145611	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:107145611G>A	ENST00000245323.4	-	5	928	c.779C>T	c.(778-780)tCg>tTg	p.S260L		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	260					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTGCTGCGGCGAGTGCTTCCT	0.557000													5	77					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114450738	114450738	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:114450738C>G	ENST00000369563.3	+	3	909	c.463C>G	c.(463-465)Ctt>Gtt	p.L155V	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	155					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCCCTGGTTCTTCCTTCCCG	0.463000								Other identified genes with known or suspected DNA repair function					12	56					0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180627003	180627003	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:180627003G>A	ENST00000393315.1	-	3	770	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	CTC-338M12.6_ENST00000502812.2_RNA|CTC-338M12.6_ENST00000509080.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.R51W|TRIM7_ENST00000274773.7_Missense_Mutation_p.R233W|TRIM7_ENST00000361809.3_Missense_Mutation_p.R25W|TRIM7_ENST00000422067.2_Missense_Mutation_p.R25W|CTC-338M12.6_ENST00000419707.2_RNA|CTC-338M12.6_ENST00000511517.1_RNA	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	233						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CCTAGCAGCCGACCCTCCTGC	0.622000													5	60					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57731931	57731931	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:57731931G>A	ENST00000360716.3	+	3	291	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	CCDC135_ENST00000394337.4_Missense_Mutation_p.E24K|CCDC135_ENST00000336825.8_Missense_Mutation_p.E24K|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	24						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CGAGTGGGCTGAATGGGCGAG	0.592000													7	56					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33689530	33689530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:33689530G>T	ENST00000321505.4	+	20	5560	c.5380G>T	c.(5380-5382)Gag>Tag	p.E1794*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.E1800*|RP4-541C22.5_ENST00000534431.1_RNA					KIAA1549-like																		CCCCAGCCTGGAGCAGGCCCC	0.667000													11	52					4.3838e-07	4.73596e-07	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133541948	133541948	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:133541948C>T	ENST00000409261.1	-	14	2809	c.2436G>A	c.(2434-2436)caG>caA	p.Q812Q	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.Q812Q	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	812							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTTTGATTTCTGAGGTGAAG	0.473000													9	155					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48390314	48390314	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:48390314C>G	ENST00000435803.1	+	30	10303	c.10279C>G	c.(10279-10281)Ctc>Gtc	p.L3427V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3427					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						CTTGGTCAATCTCTCTTCCTG	0.522000													15	98					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160274036	160274036	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:160274036G>A	ENST00000264431.4	+	21	4001	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1194					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGCGGACCATGATTGAACCTG	0.463000													7	28					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6458355	6458355	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:6458355G>A	ENST00000358945.3	-	10	1978	c.1538C>T	c.(1537-1539)tCa>tTa	p.S513L	SCNN1A_ENST00000540037.1_Missense_Mutation_p.S191L|SCNN1A_ENST00000396966.2_Intron|SCNN1A_ENST00000228916.2_Missense_Mutation_p.S491L|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S550L|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S514L			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	491					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GGGCCATCGTGAGTAACCAGC	0.567000													17	212					0	0	1	0	0
RNF180	285671	broad.mit.edu	37	5	63507942	63507942	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:63507942G>A	ENST00000389100.4	+	3	258	c.186G>A	c.(184-186)atG>atA	p.M62I	RNF180_ENST00000381081.2_Missense_Mutation_p.M62I|RNF180_ENST00000296615.6_Missense_Mutation_p.M62I	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	62						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TGTGGCACATGAATGTAGAAG	0.294000													6	33					0	0	1	0	0
STK39	27347	broad.mit.edu	37	2	168997164	168997164	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:168997164C>A	ENST00000355999.4	-	6	1438	c.733G>T	c.(733-735)Gaa>Taa	p.E245*		NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	245	Protein kinase.				response to stress	cytoplasm|nucleus	ATP binding|protein binding|receptor signaling protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						TTTACCTGTTCCATGACTTCA	0.378000													8	23					0.000274275	0.000286234	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151174833	151174833	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:151174833G>A	ENST00000282466.3	-	2	304	c.305C>T	c.(304-306)tCa>tTa	p.S102L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	102					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGCAAATCTGAGAAGGTCTT	0.478000													4	61					0	0	1	0	0
ANTXR1	84168	broad.mit.edu	37	2	69302723	69302723	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:69302723C>G	ENST00000303714.4	+	7	816	c.494C>G	c.(493-495)gCt>gGt	p.A165G	ANTXR1_ENST00000409349.3_Splice_Site_p.A165G|ANTXR1_ENST00000409829.3_Splice_Site_p.A165G	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	165	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTTCCCAGGCTAATAGGTCT	0.403000									Familial Infantile Hemangioma				4	137					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101442143	101442143	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:101442143G>C	ENST00000392979.3	+	13	1532	c.1171G>C	c.(1171-1173)Gcc>Ccc	p.A391P	ANO4_ENST00000550015.1_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.A426P|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	426						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGACAATGGAGCCACTGTCTT	0.348000										HNSCC(74;0.22)			14	36					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167858286	167858286	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:167858286C>A	ENST00000265293.4	+	15	2619	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	WWC1_ENST00000521089.1_Missense_Mutation_p.S706Y	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	706	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTTCCTTGCTCTGAAAGCACA	0.537000													14	64					2.31682e-05	2.45615e-05	1	1	0
GUCY2D	3000	broad.mit.edu	37	17	7918229	7918229	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:7918229G>C	ENST00000254854.4	+	14	2779	c.2629G>C	c.(2629-2631)Gag>Cag	p.E877Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	877					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CGAGTACTTTGAGCAAGTGAC	0.562000													26	36					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422475	179422475	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:179422475C>T	ENST00000589042.1	-	328	87830	c.87606G>A	c.(87604-87606)ctG>ctA	p.L29202L	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.L20137L|TTN_ENST00000359218.5_Silent_p.L20262L|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Silent_p.L27561L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.L26634L|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.L20329L|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27561	Fibronectin type-III 113.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCTGTGGTCAGTTTCATGA	0.413000													39	198					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73777460	73777460	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:73777460C>T	ENST00000264448.6	+	13	10082	c.9971C>T	c.(9970-9972)tCa>tTa	p.S3324L	ALMS1_ENST00000409009.1_Missense_Mutation_p.S3282L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3324					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATGACCTCTCAGCCACTGTT	0.433000													14	78					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45725633	45725633	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:45725633C>T	ENST00000297323.7	+	13	2168	c.2146C>T	c.(2146-2148)Cgc>Tgc	p.R716C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	716					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 membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGGGGGCCAGCGCACAGCCCT	0.657000													18	43					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	43032531	43032531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:43032531C>T	ENST00000399770.2	+	4	847	c.847C>T	c.(847-849)Cag>Tag	p.Q283*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	283					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAATGGTCTTCAGCGTTGTAA	0.393000													31	132					0	0	1	0	0
LSM14B	149986	broad.mit.edu	37	20	60705660	60705660	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:60705660G>C	ENST00000253001.4	+	6	954	c.748G>C	c.(748-750)Gag>Cag	p.E250Q	LSM14B_ENST00000279068.6_Missense_Mutation_p.E250Q			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	250	DFDF.				multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			AATCAAATTTGAGGGTGACTT	0.438000													3	50					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197598341	197598341	+	Nonstop_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:197598341G>C	ENST00000334859.4	+	19	2143	c.2138G>C	c.(2137-2139)tGa>tCa	p.*713S	LRCH3_ENST00000438796.2_Intron|LRCH3_ENST00000441090.2_Intron|LRCH3_ENST00000414675.2_Intron|LRCH3_ENST00000425562.2_Intron|LRCH3_ENST00000536618.1_Intron	NM_032773.2	NP_116162.1	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	0	CH.					extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTAGTAAGTTGATAATCCTAA	0.413000													50	99					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10803998	10803998	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:10803998G>A	ENST00000313243.2	-	7	1000	c.618C>T	c.(616-618)gtC>gtT	p.V206V	MAK_ENST00000354489.2_Silent_p.V206V|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Silent_p.V206V|MAK_ENST00000536370.1_Silent_p.V206V|MAK_ENST00000538030.1_Silent_p.V206V			P20794	MAK_HUMAN	male germ cell-associated kinase	206	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGATTTCATCGACCTCACTTG	0.383000													4	71					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5073859	5073859	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:5073859G>A	ENST00000574788.1	+	36	5833	c.3603G>A	c.(3601-3603)ggG>ggA	p.G1201G	USP6_ENST00000304328.5_Silent_p.G884G|USP6_ENST00000250066.6_Silent_p.G1201G|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1201					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGACTTTGGGGAGGAGCAAAG	0.527000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								5	42					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317305	30317305	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:30317305G>A	ENST00000375377.1	-	3	1873	c.1772C>T	c.(1771-1773)tCa>tTa	p.S591L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	591										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGGCAGATGTGATTCTGATTT	0.413000													4	83					0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27208293	27208293	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:27208293C>T	ENST00000394906.2	-	11	1257	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000585169.1_Missense_Mutation_p.E339K|FLOT2_ENST00000394908.4_Missense_Mutation_p.E339K			Q14254	FLOT2_HUMAN	flotillin 2	339					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TTCATCCGCTCAGCCTCTGCC	0.607000													11	117					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626579	140626579	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140626579G>C	ENST00000231173.3	+	1	1433	c.1433G>C	c.(1432-1434)aGa>aCa	p.R478T		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		478	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACAGACAGAGACTCGGGC	0.652000													10	160					0	0	1	0	0
ACTR6	64431	broad.mit.edu	37	12	100612298	100612298	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:100612298G>C	ENST00000188312.2	+	9	1621	c.856G>C	c.(856-858)Gat>Cat	p.D286H	ACTR6_ENST00000546902.1_Missense_Mutation_p.D204H|ACTR6_ENST00000551617.1_Missense_Mutation_p.D204H|ACTR6_ENST00000552376.1_Missense_Mutation_p.D286H	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	286						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TAATCCTTCTGATATAGGCAT	0.343000													3	32					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475744	140475744	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140475744C>G	ENST00000194155.4	+	1	1518	c.1370C>G	c.(1369-1371)tCc>tGc	p.S457C		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		457					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.622000													10	269					0	0	1	0	0
WIBG	84305	broad.mit.edu	37	12	56295812	56295812	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:56295812C>A	ENST00000408946.2	-	3	610	c.459G>T	c.(457-459)aaG>aaT	p.K153N	WIBG_ENST00000398213.4_Missense_Mutation_p.K152N|WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000302533.6_5'UTR	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	153	eIF2A-like.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGTTCTTTATCTTCTTGGCTT	0.577000													12	266					5.50884e-06	5.88798e-06	1	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209219330	209219330	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:209219330G>C	ENST00000264380.4	+	41	6300	c.6142G>C	c.(6142-6144)Gag>Cag	p.E2048Q		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	2048	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CAAAAAGCTTGAGATGGTTGT	0.294000													9	41					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928098	38928098	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:38928098G>C	ENST00000335552.4	-	1	316	c.268C>G	c.(268-270)Ctc>Gtc	p.L90V		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	90	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CGGTCGTTGAGATTCTGCATG	0.547000													24	192					0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52884916	52884916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:52884916C>A	ENST00000330722.6	-	3	864	c.796G>T	c.(796-798)Gaa>Taa	p.E266*		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	266	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTCACAAATTCATTCTCTGCT	0.478000													12	85					1.52009e-12	1.69194e-12	1	1	0
TRPV5	56302	broad.mit.edu	37	7	142612513	142612513	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:142612513C>A	ENST00000265310.1	-	10	1598	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	417					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					AATCGTCTTTCCAAAATAGCG	0.512000													29	118					5.45727e-16	6.11599e-16	1	1	0
ACD	65057	broad.mit.edu	37	16	67692233	67692233	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:67692233C>T	ENST00000219251.8	-	10	1442	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	ACD_ENST00000393919.4_Missense_Mutation_p.E374K	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	374	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCACTTTCCTCGGATGACATG	0.632000													13	44					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55111235	55111235	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:55111235C>T	ENST00000505374.1	+	21	2173	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	DDX4_ENST00000353507.5_Missense_Mutation_p.S660L|DDX4_ENST00000514278.2_Missense_Mutation_p.S674L|DDX4_ENST00000511853.1_Missense_Mutation_p.S545L|DDX4_ENST00000354991.5_Missense_Mutation_p.S660L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	694					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGTTTGCATCAGTTGATACC	0.363000													4	50					0	0	1	0	0
DNAJB1	3337	broad.mit.edu	37	19	14629110	14629110	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:14629110C>G	ENST00000254322.2	-	1	122	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	DNAJB1_ENST00000396969.4_Intron	NM_006145.1	NP_006136.1	P25685	DNJB1_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 1	18	J.				chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	p.E18K(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		TTGATCTCCTCGTCCGACGCG	0.701000													11	42					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913044	32913044	+	Missense_Mutation	SNP	G	G	C	rs80359458		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:32913044G>C	ENST00000544455.1	+	11	4779	c.4552G>C	c.(4552-4554)Gaa>Caa	p.E1518Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1518Q	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1518					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.K1517fs*23(1)		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)		AAAGATCAAAGAACCTACTCT	0.373000			"""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)			20	21					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43325119	43325119	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:43325119G>A	ENST00000361428.2	-	3	1010	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ZNF318_ENST00000318149.3_Silent_p.L311L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	311					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACTCAGGGTCGAGAAACCTAG	0.507000													5	47					0	0	1	0	0
PRAMEF7	441871	broad.mit.edu	37	1	12980180	12980180	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:12980180C>T	ENST00000361079.2	+	4	1455	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTGCCCTCGCTGTGGCAT	0.547000													4	54					0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27645482	27645482	+	Missense_Mutation	SNP	G	G	C	rs144288263	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:27645482G>C	ENST00000305188.8	+	6	1332	c.1094G>C	c.(1093-1095)aGa>aCa	p.R365T	ESCO2_ENST00000397418.2_Missense_Mutation_p.R13T	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	365					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		ACTAATACCAGAGATACAAGT	0.378000									SC Phocomelia syndrome				8	45					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158063454	158063454	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:158063454G>C	ENST00000368172.1	+	9	1075	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	KIRREL_ENST00000368173.3_Missense_Mutation_p.E557Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.E438Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.E377Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.E441Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.E541Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	541	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TATCAAGGTGGAGACAGTGAA	0.592000													22	61					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91989747	91989747	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:91989747G>A	ENST00000428239.1	+	12	1739	c.1480G>A	c.(1480-1482)Gac>Aac	p.D494N	CDC7_ENST00000234626.6_Missense_Mutation_p.D494N|CDC7_ENST00000430031.2_Missense_Mutation_p.D466N	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	494	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGAGAAGACTGACCATAAAGC	0.423000													8	131					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817651	1817651	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:1817651G>C	ENST00000250894.4	+	27	3478	c.3321G>C	c.(3319-3321)ctG>ctC	p.L1107L	MAPK8IP3_ENST00000356010.5_Silent_p.L1101L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1107					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCATCCGCCTGGACTCCACCC	0.632000													5	56					0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41834874	41834874	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:41834874C>A	ENST00000379480.4	-	2	270	c.170G>T	c.(169-171)tGg>tTg	p.W57L	MTRF1_ENST00000430347.2_Missense_Mutation_p.W70L|MTRF1_ENST00000379477.1_Missense_Mutation_p.W57L|MTRF1_ENST00000239852.6_5'UTR	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	57					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		TCTCCTGGACCAATTCTTACT	0.388000													17	61					1.02788e-11	1.13778e-11	1	1	0
GNPTAB	79158	broad.mit.edu	37	12	102147302	102147302	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:102147302C>G	ENST00000299314.7	-	19	3712	c.3450G>C	c.(3448-3450)ctG>ctC	p.L1150L		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1150					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TGTTGTCATTCAGGCAAACAA	0.388000													17	43					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424771	91424771	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:91424771G>A	ENST00000268171.3	+	16	2327	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	683	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGAGCAGCCGAGAGTCCCCG	0.711000													3	17					0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73229201	73229201	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:73229201C>A	ENST00000447371.2	+	15	1483	c.1059C>A	c.(1057-1059)ctC>ctA	p.L353L	NUP85_ENST00000579298.1_Silent_p.L476L|NUP85_ENST00000541827.1_Silent_p.L475L|NUP85_ENST00000540768.1_Silent_p.L124L|NUP85_ENST00000579324.1_Silent_p.L409L|NUP85_ENST00000245544.4_Silent_p.L521L			Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	521					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATTTGGATCTCATTGACAACC	0.567000													15	208					6.31663e-08	6.86384e-08	1	1	0
RC3H1	149041	broad.mit.edu	37	1	173930270	173930270	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:173930270G>C	ENST00000367696.2	-	13	2666	c.2315C>G	c.(2314-2316)tCt>tGt	p.S772C	RC3H1_ENST00000258349.4_Missense_Mutation_p.S772C|RC3H1_ENST00000367694.2_Missense_Mutation_p.S772C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	772	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AGGAGGTGGAGAGATAACCTT	0.463000													15	159					0	0	1	0	0
CHST12	55501	broad.mit.edu	37	7	2472820	2472820	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:2472820G>A	ENST00000258711.6	+	2	681	c.546G>A	c.(544-546)atG>atA	p.M182I		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	182					dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		AGCGCGTGATGATCGTGCTGA	0.682000													7	89					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999580	46999580	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:46999580C>A	ENST00000374314.4	+	1	1655	c.700C>A	c.(700-702)Cta>Ata	p.L234I	GPRIN2_ENST00000374317.1_Missense_Mutation_p.L234I			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	234										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCAGCTGCTCTACTCTGTGG	0.632000													4	92					0.00024832	0.000259354	1	1	0
RPS6KB1	6198	broad.mit.edu	37	17	57990079	57990079	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:57990079G>C	ENST00000225577.4	+	3	247	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	RPS6KB1_ENST00000406116.3_Missense_Mutation_p.E76Q|RPS6KB1_ENST00000393021.3_Missense_Mutation_p.E23Q|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.E76Q	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	76					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGAAATCTCAGAAACTAGTGT	0.363000													29	152					0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66505961	66505961	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:66505961G>C	ENST00000360242.5	+	3	742	c.625G>C	c.(625-627)Gat>Cat	p.D209H	CCDC102B_ENST00000319445.6_Missense_Mutation_p.D209H|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D209H|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D209H|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	209										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGTGGTTATTGATTCTCTAAA	0.343000													7	28					0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41944203	41944203	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:41944203C>G	ENST00000221943.9	-	2	140	c.135G>C	c.(133-135)ctG>ctC	p.L45L	ATP5SL_ENST00000592922.2_Silent_p.L45L|ATP5SL_ENST00000589970.1_Silent_p.L45L|ATP5SL_ENST00000301183.11_Silent_p.L51L|ATP5SL_ENST00000417807.3_Silent_p.L51L|ATP5SL_ENST00000597457.1_Silent_p.L45L|ATP5SL_ENST00000595425.1_Silent_p.L45L|ATP5SL_ENST00000438807.3_Silent_p.L45L|ATP5SL_ENST00000590641.2_Silent_p.L51L	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	45										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						AATAGTTGGTCAGGAACTGGA	0.527000													45	145					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6424559	6424559	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:6424559G>A	ENST00000389906.2	-	5	1129	c.1030C>T	c.(1030-1032)Cag>Tag	p.Q344*	APBB1_ENST00000608655.1_Nonsense_Mutation_p.Q124*|APBB1_ENST00000311051.3_Nonsense_Mutation_p.Q344*|APBB1_ENST00000608394.1_Nonsense_Mutation_p.Q85*|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000609360.1_Nonsense_Mutation_p.Q344*|APBB1_ENST00000299402.6_Nonsense_Mutation_p.Q344*|APBB1_ENST00000608645.1_Nonsense_Mutation_p.Q85*|APBB1_ENST00000609331.1_Nonsense_Mutation_p.Q109*|APBB1_ENST00000530885.1_Nonsense_Mutation_p.Q124*|APBB1_ENST00000608704.1_Nonsense_Mutation_p.Q85*			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	344					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTGAGGCTCTGAGCTGGGAAG	0.582000													4	81					0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26684873	26684873	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:26684873C>A	ENST00000292114.3	+	1	270	c.180C>A	c.(178-180)atC>atA	p.I60I	TMEM199_ENST00000509083.1_Silent_p.I60I|TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	60						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCCGTCTCATCCGGGATCTGC	0.617000													20	124					3.51602e-12	3.90353e-12	1	1	0
CELF2	10659	broad.mit.edu	37	10	11312639	11312639	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:11312639C>T	ENST00000379261.4	+	7	700	c.608C>T	c.(607-609)tCa>tTa	p.S203L	CELF2_ENST00000354897.3_Missense_Mutation_p.S179L|CELF2_ENST00000537122.1_Missense_Mutation_p.S92L|CELF2_ENST00000609692.1_Missense_Mutation_p.S179L|CELF2_ENST00000416382.2_Missense_Mutation_p.S203L|CELF2_ENST00000417956.2_Missense_Mutation_p.S179L|CELF2_ENST00000542579.1_Missense_Mutation_p.S210L|CELF2_ENST00000427450.1_Missense_Mutation_p.S179L|CELF2_ENST00000315874.4_Missense_Mutation_p.S179L|CELF2_ENST00000399850.3_Missense_Mutation_p.S179L|CELF2_ENST00000608830.1_Missense_Mutation_p.S179L|CELF2_ENST00000450189.1_Missense_Mutation_p.S210L|CELF2_ENST00000354440.2_Missense_Mutation_p.S179L	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	203	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.|RRM 2.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTGCTCTTCACCTATCGTG	0.572000											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	81					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151678328	151678328	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:151678328C>T	ENST00000290583.4	-	11	2033	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	CELF3_ENST00000392706.3_Missense_Mutation_p.D209N|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.D364N|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	414	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						GTGGCTCGGTCAACAAAGACT	0.438000													81	63					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34537957	34537957	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:34537957G>A	ENST00000354181.3	-	14	2253	c.1761C>T	c.(1759-1761)agC>agT	p.S587S	SLC12A6_ENST00000558589.1_Silent_p.S578S|SLC12A6_ENST00000558667.1_Silent_p.S587S|SLC12A6_ENST00000451844.2_Silent_p.S399S|SLC12A6_ENST00000560164.1_Silent_p.S399S|SLC12A6_ENST00000458406.2_Silent_p.S528S|SLC12A6_ENST00000560611.1_Silent_p.S587S|SLC12A6_ENST00000290209.5_Silent_p.S536S|SLC12A6_ENST00000397707.2_Silent_p.S572S|SLC12A6_ENST00000397702.2_Silent_p.S528S			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	587					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CACCTGTGAGGCTCTGAAGTC	0.473000													9	45					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745425	140745425	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140745425G>C	ENST00000518069.1	+	1	1528	c.1528G>C	c.(1528-1530)Gac>Cac	p.D510H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTAACTCTGACACCGGTGT	0.557000													95	157					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13615286	13615286	+	Splice_Site	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:13615286C>A	ENST00000040738.5	-	5	1310		c.e5-1			NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1								DNA binding										AAAGAGAAATCTTCAAGCGGA	0.313000													10	19					9.70103e-10	1.06479e-09	1	1	0
C15orf40	123207	broad.mit.edu	37	15	83677386	83677386	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:83677386G>C	ENST00000304177.5	-	3	313	c.199C>G	c.(199-201)Cca>Gca	p.P67A	C15orf40_ENST00000451195.3_Missense_Mutation_p.P94A|C15orf40_ENST00000538348.2_Missense_Mutation_p.P94A|C15orf40_ENST00000513601.2_Missense_Mutation_p.P94A|C15orf40_ENST00000565712.1_Intron|RP11-382A20.5_ENST00000566841.1_RNA	NM_001160114.1|NM_144597.2	NP_001153586.1|NP_653198.2	Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	67										large_intestine(3)|lung(2)|skin(1)	6						CCCTCTGATGGAGGTGCTGCA	0.443000													19	45					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64473810	64473810	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:64473810G>A	ENST00000358025.3	+	31	4677	c.4447G>A	c.(4447-4449)Gag>Aag	p.E1483K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E1483K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.E1483K	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1483					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATATGAAGAAGAGAAGAGACA	0.338000													25	118					0	0	1	0	0
C1orf194	127003	broad.mit.edu	37	1	109656341	109656341	+	Translation_Start_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:109656341G>C	ENST00000369949.4	-	0	138					NM_001122961.1	NP_001116433.1	Q5T5A4	CA194_HUMAN	chromosome 1 open reading frame 194											large_intestine(2)|lung(2)|ovary(2)	6						CAACATCGGAGATGCTCATAA	0.547000													5	46					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228786249	228786249	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:228786249C>A	ENST00000309931.2	+	12	1268	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	DAW1_ENST00000545118.1_Missense_Mutation_p.F380L|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1			dynein assembly factor with WDR repeat domains 1																		CATGTGCTTTCAACTATAAAG	0.438000													5	39					3.59834e-05	3.7993e-05	1	1	0
RSF1	51773	broad.mit.edu	37	11	77411852	77411852	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:77411852C>T	ENST00000308488.6	-	6	2724	c.2422G>A	c.(2422-2424)Gaa>Aaa	p.E808K	RSF1_ENST00000360355.2_Missense_Mutation_p.E777K|RSF1_ENST00000480887.1_Missense_Mutation_p.E556K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	808					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GACTCTTCTTCCACCTCATCT	0.353000													4	81					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42442033	42442033	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:42442033C>G	ENST00000397272.3	-	11	1028	c.937G>C	c.(937-939)Gac>Cac	p.D313H	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.D313H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	313	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGCGTAGGTCTAGGTCCCCG	0.627000													14	50					0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50636312	50636312	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:50636312G>C	ENST00000303434.4	+	8	851	c.732G>C	c.(730-732)atG>atC	p.M244I	TRABD_ENST00000395829.1_Missense_Mutation_p.M244I|TRABD_ENST00000380909.4_Missense_Mutation_p.M244I|TRABD_ENST00000395827.1_Missense_Mutation_p.M244I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	244										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		TGGCCGAGATGATTGGCGAGT	0.637000													12	100					0	0	1	0	0
TDRD9	122402	broad.mit.edu	37	14	104465028	104465028	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:104465028G>C	ENST00000409874.4	+	13	1494	c.1446G>C	c.(1444-1446)ttG>ttC	p.L482F	TDRD9_ENST00000339063.5_Missense_Mutation_p.L482F	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	482	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCTGCGATTGAGTTGGGCTT	0.368000													10	67					0	0	1	0	0
SCRN2	90507	broad.mit.edu	37	17	45915270	45915270	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:45915270G>T	ENST00000584123.1	-	7	1547	c.1242C>A	c.(1240-1242)ctC>ctA	p.L414L	SCRN2_ENST00000290216.9_Silent_p.L406L|SCRN2_ENST00000407215.3_3'UTR			Q96FV2	SCRN2_HUMAN	secernin 2	406					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCAGCTCCCAGAGGGGTGGGG	0.657000													11	29					0.000978159	0.00101311	1	1	0
ZNF217	7764	broad.mit.edu	37	20	52198765	52198765	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:52198765C>G	ENST00000371471.2	-	2	1026	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.E201Q			O75362	ZN217_HUMAN	zinc finger protein 217	201					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGGACGACCTCGTTGATCGTT	0.483000													28	208					0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32505449	32505449	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:32505449C>G	ENST00000520502.2	+	1	213	c.213C>G	c.(211-213)ctC>ctG	p.L71L	NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron	NM_013959.3	NP_039253.1	Q02297	NRG1_HUMAN	neuregulin 1	282	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGGTTGCCTCAACTCAGAGA	0.592000													13	158					0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61789002	61789002	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:61789002G>T	ENST00000332981.5	+	1	568	c.183G>T	c.(181-183)caG>caT	p.Q61H	RP11-902B17.1_ENST00000500036.2_RNA	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	61	C2.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		GCACCAAGCAGAAGACCAACA	0.637000													15	37					6.31663e-08	6.86384e-08	1	1	0
AADACL4	343066	broad.mit.edu	37	1	12726658	12726658	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:12726658C>G	ENST00000376221.1	+	4	1136	c.1136C>G	c.(1135-1137)tCc>tGc	p.S379C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	379						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTTCACGGATCCATTATCTTT	0.448000													8	102					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104579413	104579413	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:104579413G>T	ENST00000304883.2	-	2	836	c.696C>A	c.(694-696)ctC>ctA	p.L232L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	232						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCACAAAGCAGAGAGTACGGC	0.383000													33	36					1.414e-09	1.5494e-09	1	1	0
TCHH	7062	broad.mit.edu	37	1	152082353	152082353	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152082353C>G	ENST00000368804.1	-	2	3339	c.3340G>C	c.(3340-3342)Gag>Cag	p.E1114Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1114	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgcagctcctcttcctccCGA	0.607000													27	151					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	366464	366464	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:366464C>G	ENST00000240499.7	+	4	387	c.238C>G	c.(238-240)Cat>Gat	p.H80D	ZNF141_ENST00000512994.1_Missense_Mutation_p.H80D|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	80					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TATGTGTTCTCATTTCACCCA	0.294000													8	76					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2697922	2697922	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:2697922G>C	ENST00000320876.6	+	10	1563	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.D409H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	409					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CACAGCAGCTGATAGTTTTGA	0.368000													6	100					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100608752	100608752	+	Silent	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:100608752A>G	ENST00000370141.2	+	8	735	c.729A>G	c.(727-729)caA>caG	p.Q243Q	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		TTGATATTCAACACTTGTGTT	0.318000													5	11					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6732258	6732258	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:6732258G>A	ENST00000405858.1	-	5	856	c.315C>T	c.(313-315)ttC>ttT	p.F105F	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Silent_p.F69F|ZNF12_ENST00000342651.5_Silent_p.F105F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	105					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGTCTCAATGAACACAGTTT	0.363000													23	172					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75191402	75191402	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:75191402G>C	ENST00000336926.6	-	12	1119	c.1093C>G	c.(1093-1095)Caa>Gaa	p.Q365E	HIP1_ENST00000434438.2_Missense_Mutation_p.Q365E	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	365					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ACACCATTTTGACTGTTGAAA	0.413000			T	PDGFRB	CMML								8	93					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62750722	62750722	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:62750722C>G	ENST00000400873.3	-	0	1891					NR_026899.1																						CAACCTGAGTCTGTTCATCTG	0.458000													16	382					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062138	9062138	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:9062138G>C	ENST00000397910.4	-	3	25511	c.25308C>G	c.(25306-25308)gtC>gtG	p.V8436V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8438	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTCAGAAAGGACAGTGCTTC	0.522000													7	116					0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48153054	48153054	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:48153054C>G	ENST00000320031.8	+	12	1959	c.1629C>G	c.(1627-1629)ttC>ttG	p.F543L	ITGA3_ENST00000007722.7_Missense_Mutation_p.F543L|ITGA3_ENST00000544892.1_3'UTR	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	543					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACGGCTTCTTCTCCATGCCCG	0.662000													5	83					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412524	43412524	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:43412524G>C	ENST00000310826.5	-	3	1864	c.1681C>G	c.(1681-1683)Ctt>Gtt	p.L561V	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L561V|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L561V	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		TGACGGTGAAGACCTGCTGTT	0.408000													24	86					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48735478	48735478	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:48735478C>G	ENST00000285238.8	+	5	602	c.522C>G	c.(520-522)ttC>ttG	p.F174L	ABCC3_ENST00000427699.1_Missense_Mutation_p.F174L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	174					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCACCACCTTCTACATCCACT	0.577000													5	154					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98240767	98240767	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:98240767G>C	ENST00000284049.3	-	2	238	c.89C>G	c.(88-90)tCt>tGt	p.S30C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	30	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACCAGATCCAGAGCCTGAAGC	0.423000													4	66					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74803713	74803713	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:74803713C>G	ENST00000263556.3	-	9	1320	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L	P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000440381.1_Silent_p.L360L|P4HA1_ENST00000307116.2_Intron|P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000373008.2_Silent_p.L360L	NM_000917.3	NP_000908.2	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	360						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TAGCTCGGCTCAGCTACAAAA	0.433000													43	79					0	0	1	0	0
TBC1D31	93594	broad.mit.edu	37	8	124140692	124140692	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:124140692G>C	ENST00000287380.1	+	14	2146	c.2056G>C	c.(2056-2058)Gac>Cac	p.D686H	TBC1D31_ENST00000378080.2_Missense_Mutation_p.D581H|TBC1D31_ENST00000521676.1_Missense_Mutation_p.D563H|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.D686H|TBC1D31_ENST00000522420.1_Missense_Mutation_p.D581H|TBC1D31_ENST00000327098.5_Missense_Mutation_p.D686H	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		GTTTATTGTGGACTATCAAAC	0.343000													7	76					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997281	144997281	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:144997281C>G	ENST00000322810.4	-	31	7396	c.7227G>C	c.(7225-7227)aaG>aaC	p.K2409N	PLEC_ENST00000527096.1_Missense_Mutation_p.K2295N|PLEC_ENST00000398774.2_Missense_Mutation_p.K2240N|PLEC_ENST00000345136.3_Missense_Mutation_p.K2272N|PLEC_ENST00000436759.2_Missense_Mutation_p.K2299N|PLEC_ENST00000357649.2_Missense_Mutation_p.K2276N|PLEC_ENST00000356346.3_Missense_Mutation_p.K2258N|PLEC_ENST00000354958.2_Missense_Mutation_p.K2250N|PLEC_ENST00000354589.3_Missense_Mutation_p.K2272N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2409	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGCTTCATCTTCTCAGCCT	0.652000													3	27					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628343	46628343	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:46628343G>A	ENST00000470495.1	-	2	2096	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.R144C|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000489475.1_Missense_Mutation_p.R144C|HOXB3_ENST00000490677.1_Missense_Mutation_p.R83C|HOXB3_ENST00000311626.4_Missense_Mutation_p.R217C|HOXB3_ENST00000485909.2_Missense_Mutation_p.R85C|HOXB3_ENST00000476342.1_Missense_Mutation_p.R217C|HOXB3_ENST00000460160.1_Missense_Mutation_p.R85C|HOXB3_ENST00000498678.1_Missense_Mutation_p.R217C			P14651	HXB3_HUMAN	homeobox B3	217					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTACACGGCGAGGCCGGCAC	0.622000													7	156					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231060699	231060699	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:231060699C>G	ENST00000366661.4	-	14	1616	c.1609G>C	c.(1609-1611)Gag>Cag	p.E537Q	TTC13_ENST00000414259.1_Missense_Mutation_p.E484Q|TTC13_ENST00000366662.4_Missense_Mutation_p.E484Q	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	537							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TGCATGACCTCCAATGCGGCC	0.468000													6	75					0	0	1	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452544	26452544	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:26452544C>G	ENST00000244519.2	+	11	1903	c.1660C>G	c.(1660-1662)Ctg>Gtg	p.L554V	BTN3A3_ENST00000339789.4_Missense_Mutation_p.L512V|BTN3A3_ENST00000361232.3_Missense_Mutation_p.L505V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	554						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AGTAACATCTCTGCTTCTCCC	0.537000													9	22					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219875560	219875560	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:219875560C>A	ENST00000341552.5	-	25	4199	c.4116G>T	c.(4114-4116)tgG>tgT	p.W1372C	CCDC108_ENST00000453220.1_Missense_Mutation_p.W1372C|CCDC108_ENST00000441968.1_Missense_Mutation_p.W1372C|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1372						integral to membrane	structural molecule activity	p.W1372C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGAGAAGATCCACAAGACCC	0.567000													3	12					0.115264	0.116154	1	1	0
ZNF507	22847	broad.mit.edu	37	19	32847586	32847586	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:32847586C>G	ENST00000311921.4	+	3	2384	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	ZNF507_ENST00000355898.5_Missense_Mutation_p.S731C|ZNF507_ENST00000544431.1_Missense_Mutation_p.S731C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ATAGCAACTTCTAATGAGCCA	0.378000													4	88					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118456876	118456876	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:118456876G>C	ENST00000392542.2	+	3	535		c.e3-1		RFC5_ENST00000229043.3_Splice_Site|RFC5_ENST00000454402.2_Splice_Site	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa						cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGTATTTCAGGGTTGAAAAA	0.388000													9	63					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064452	7064452	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:7064452C>T	ENST00000299481.4	+	4	1541	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	399	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AACCACAGCTCTGTTTACCTG	0.522000													13	166					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72921725	72921725	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:72921725G>C	ENST00000331427.4	+	3	480	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	OTOP2_ENST00000580223.1_Missense_Mutation_p.E130Q	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	130						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					CAGTTTCTTTGAGTGCCAGTC	0.552000													34	190					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44429085	44429085	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:44429085G>C	ENST00000378551.2	+	2	1159	c.747G>C	c.(745-747)atG>atC	p.M249I	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Missense_Mutation_p.M249I|PPM1B_ENST00000409432.3_Missense_Mutation_p.M249I|PPM1B_ENST00000282412.4_Missense_Mutation_p.M249I	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	249					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGGATGTTATGAGTAATGAGG	0.403000													6	46					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43944996	43944996	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:43944996G>A	ENST00000389420.3	-	2	168	c.169C>T	c.(169-171)Cag>Tag	p.Q57*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.Q57*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	57						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGGTGGCTCTGAGGGAACACT	0.587000													13	95					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20215090	20215090	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:20215090G>T	ENST00000418063.2	+	2	158	c.46G>T	c.(46-48)Gag>Tag	p.E16*	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	16	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATTCTCTCTGGAGGAGTGGCA	0.433000													6	78					0.248553	0.24903	1	1	0
ZNF497	162968	broad.mit.edu	37	19	58868555	58868555	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58868555G>A	ENST00000311044.3	-	3	635	c.447C>T	c.(445-447)ctC>ctT	p.L149L	CTD-2619J13.8_ENST00000599109.1_RNA|ZNF497_ENST00000425453.3_Silent_p.L149L	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GGTGCTGGCTGAGGTTGGAGC	0.667000													11	27					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349732	65349732	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:65349732G>C	ENST00000309295.4	+	9	1854	c.1589G>C	c.(1588-1590)gGa>gCa	p.G530A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	530										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTTCTGTTGGAGCAATAAGC	0.647000													3	26					0	0	1	0	0
HIST1H4E	8367	broad.mit.edu	37	6	26204945	26204945	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:26204945G>C	ENST00000360441.4	+	1	88	c.73G>C	c.(73-75)Gat>Cat	p.D25H		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	25					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GGTCCTGCGAGATAACATCCA	0.587000													26	71					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111164459	111164459	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:111164459C>T	ENST00000360467.5	+	48	5366	c.5060C>T	c.(5059-5061)tCg>tTg	p.S1687L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1687	Collagen IV NC1.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TTCCAGGGCTCGCCCTCCGCC	0.632000													8	86					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84800612	84800612	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:84800612G>A	ENST00000389394.3	+	12	1962	c.1825G>A	c.(1825-1827)Gaa>Aaa	p.E609K	DNAH6_ENST00000237449.6_Missense_Mutation_p.E609K|DNAH6_ENST00000398278.2_Missense_Mutation_p.E609K	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	609	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GGCCGCATTTGAATCAGCCCG	0.338000													4	60					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628691	3628691	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:3628691G>C	ENST00000325418.4	+	1	1481	c.1462G>C	c.(1462-1464)Gag>Cag	p.E488Q	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	488	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GCAACGCTGTGAGAAGATTGG	0.453000													4	68					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49000521	49000521	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:49000521C>G	ENST00000226432.4	+	6	941	c.758C>G	c.(757-759)tCt>tGt	p.S253C	CWH43_ENST00000513409.1_Missense_Mutation_p.S226C	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	253					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						ATGCTTCCATCTTGTTTGTGG	0.433000													18	86					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7782090	7782090	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:7782090C>T	ENST00000357716.4	+	10	3019	c.2745C>T	c.(2743-2745)atC>atT	p.I915I	GRM7_ENST00000486284.1_3'UTR	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	915					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ACCTGGTTATCTAACCTGTTC	0.433000													3	17					0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22095672	22095672	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:22095672C>G	ENST00000379374.4	+	5	1080	c.515C>G	c.(514-516)tCt>tGt	p.S172C	PHEX_ENST00000535894.1_Missense_Mutation_p.S75C|PHEX_ENST00000537599.1_Missense_Mutation_p.S172C	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	172					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GTGCTTGAATCTAATATTGGC	0.483000													17	254					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53721857	53721857	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:53721857C>G	ENST00000262135.4	-	5	643	c.550G>C	c.(550-552)Gat>Cat	p.D184H	RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D184H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D184H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D184H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	184					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCTGCTACATCTGCATCTTGG	0.294000													13	42					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992385	96992385	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:96992385G>C	ENST00000361124.4	+	1	451	c.40G>C	c.(40-42)Gag>Cag	p.E14Q	ITPRIPL1_ENST00000542887.1_5'UTR|ITPRIPL1_ENST00000536814.1_5'UTR|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.E6Q	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	6						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCAGATGCAGAGGCCTCCAT	0.512000													15	96					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132618639	132618639	+	Splice_Site	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:132618639G>A	ENST00000315480.4	+	4	293	c.135G>A	c.(133-135)caG>caA	p.Q45Q	USP20_ENST00000358355.1_Splice_Site_p.Q45Q|USP20_ENST00000372429.3_Splice_Site_p.Q45Q			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	45					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCTGTCTGCAGGTAAAAGACC	0.567000													27	131					0	0	1	0	0
CPD	1362	broad.mit.edu	37	17	28772894	28772894	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:28772894C>T	ENST00000225719.4	+	12	2805	c.2729C>T	c.(2728-2730)tCa>tTa	p.S910L	CPD_ENST00000543464.2_Missense_Mutation_p.S663L	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	910	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AAAGACCTTTCAGCGGAGAAT	0.413000													9	78					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30721438	30721438	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30721438C>A	ENST00000262518.4	+	8	1508	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	SRCAP_ENST00000344771.4_Missense_Mutation_p.Q375K|SRCAP_ENST00000395059.2_Missense_Mutation_p.Q375K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	375	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGAGCCCCCTCAGGTGTTGGA	0.572000													4	40					0.014758	0.0150053	1	1	0
POC1A	25886	broad.mit.edu	37	3	52183892	52183892	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:52183892G>A	ENST00000394970.2	-	3	532	c.215C>T	c.(214-216)tCg>tTg	p.S72L	POC1A_ENST00000474012.1_Missense_Mutation_p.S34L|POC1A_ENST00000296484.2_Missense_Mutation_p.S72L	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	72						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGGTGTCCCGAAGGAGAGAA	0.577000													43	59					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223971979	223971979	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:223971979G>A	ENST00000391878.2	-	18	3582	c.2814C>T	c.(2812-2814)gtC>gtT	p.V938V	TP53BP2_ENST00000391879.2_Silent_p.V300V|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.V1067V	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	1061	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCGCATAAATGACTCCTTTAT	0.398000													15	47					0	0	1	0	0
C12orf55	144535	broad.mit.edu	37	12	97057705	97057705	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:97057705C>G	ENST00000524981.4	+	39	5581	c.5558C>G	c.(5557-5559)tCt>tGt	p.S1853C						chromosome 12 open reading frame 55																		ATGCTTATCTCTTCAGGTCAG	0.358000													3	40					0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036844	57036844	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:57036844C>G	ENST00000308031.5	+	5	1541	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E	ZNF471_ENST00000593197.1_Intron|ZNF471_ENST00000591537.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		AGCCTTTAGGCAGAATGTACA	0.398000													17	67					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100087722	100087722	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:100087722G>C	ENST00000415585.2	+	11	1113		c.e11-1		CSTF2_ENST00000372972.2_Splice_Site			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa						mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						TCCATCTCCAGAGGTTACTTG	0.473000													4	14					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156788582	156788582	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:156788582C>G	ENST00000347377.6	+	26	3446	c.3015C>G	c.(3013-3015)ttC>ttG	p.F1005L	CYFIP2_ENST00000521420.1_Missense_Mutation_p.F979L|CYFIP2_ENST00000377576.3_Missense_Mutation_p.F1005L|CYFIP2_ENST00000435847.2_Missense_Mutation_p.F704L|CYFIP2_ENST00000522463.1_Missense_Mutation_p.F809L|CYFIP2_ENST00000318218.6_Missense_Mutation_p.F1030L|CYFIP2_ENST00000541131.1_Missense_Mutation_p.F930L|CYFIP2_ENST00000442283.2_3'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1030					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATCCTCTTCTGCCTCCTCA	0.542000													5	29					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495417	71495417	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:71495417G>A	ENST00000296755.7	+	5	6533	c.6235G>A	c.(6235-6237)Gat>Aat	p.D2079N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2079						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCCCGTCAGGATGTCGATTT	0.478000													25	87					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31631105	31631105	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:31631105C>T	ENST00000349552.1	+	14	1261	c.1261C>T	c.(1261-1263)Caa>Taa	p.Q421*		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	421						extracellular region	lipid binding										AGATGTGCTTCAAGTGGGGCT	0.517000													21	117					0	0	1	0	0
SUMO3	6612	broad.mit.edu	37	21	46233984	46233984	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:46233984C>T	ENST00000332859.6	-	2	217	c.57G>A	c.(55-57)ctG>ctA	p.L19L	SUMO3_ENST00000397893.3_Silent_p.L19L|SUMO3_ENST00000411651.2_Silent_p.L19L|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000397898.3_Silent_p.L19L	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	19	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		CGGCCACCTTCAGGTTGATGT	0.567000													13	218					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1481869	1481869	+	Silent	SNP	G	G	A	rs150984670		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:1481869G>A	ENST00000300954.5	-	15	2218	c.2157C>T	c.(2155-2157)ctC>ctT	p.L719L		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	719					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGCCTCCGAGGGTCACGG	0.716000													9	20					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50571758	50571758	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:50571758C>G	ENST00000444124.2	-	7	915		c.e7-1		DDC_ENST00000380984.4_Splice_Site|DDC_ENST00000357936.5_Splice_Site|DDC_ENST00000431062.1_Splice_Site|DDC_ENST00000426377.1_Splice_Site	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)						cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGGCAACCATCTAGAGGGTAA	0.498000													13	48					0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3768905	3768905	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:3768905C>T	ENST00000378230.3	-	2	391	c.67G>A	c.(67-69)Gag>Aag	p.E23K	CEP104_ENST00000378223.3_Missense_Mutation_p.E23K	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	23						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ATCATGAGCTCCCGGGCACTG	0.597000													8	50					0	0	1	0	0
RNF168	165918	broad.mit.edu	37	3	196199401	196199401	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:196199401G>C	ENST00000318037.3	-	6	1599	c.1005C>G	c.(1003-1005)acC>acG	p.T335T		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	335					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		AGGGAACTCTGGTTTTAGGTC	0.483000													5	72					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140397169	140397169	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:140397169C>G	ENST00000286349.3	+	1	289	c.98C>G	c.(97-99)tCa>tGa	p.S33*		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	33	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATCTTCACCTCAGAGCGGAAC	0.522000													35	138					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6614476	6614476	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:6614476G>C	ENST00000377705.5	-	1	119	c.87C>G	c.(85-87)ctC>ctG	p.L29L		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	29					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		gccggcggcTGAGGATGAGCT	0.731000													6	27					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127825814	127825814	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:127825814C>T	ENST00000316724.5	-	7	948	c.537G>A	c.(535-537)gaG>gaA	p.E179E	BIN1_ENST00000346226.3_Intron|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000357970.3_Silent_p.E179E|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000351659.3_Silent_p.E179E	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	179	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGGCGGCTTTCTCAAGCAGCG	0.557000											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96505890	96505890	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:96505890G>C	ENST00000376747.3	-	36	4261	c.4191C>G	c.(4189-4191)ctC>ctG	p.L1397L		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1397	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGAACTTCTTGAGATCCACTA	0.393000													6	37					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10468647	10468647	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:10468647C>G	ENST00000382483.3	-	4	3184	c.2961G>C	c.(2959-2961)ctG>ctC	p.L987L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	987					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CGGGGCCTCTCAGGCCACCCC	0.642000													48	38					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7571947	7571947	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7571947G>C	ENST00000361664.2	+	8	1354	c.1213G>C	c.(1213-1215)Gat>Cat	p.D405H		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	405										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						TCCAGAATTCGATTTTTTAAC	0.577000													15	23					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026632	65026632	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:65026632G>C	ENST00000262138.3	+	4	498	c.496G>C	c.(496-498)Gac>Cac	p.D166H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	166					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CAACACAGGTGACCCGAGTGA	0.542000													18	309					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125674274	125674274	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:125674274C>T	ENST00000373659.3	-	2	166	c.78G>A	c.(76-78)ttG>ttA	p.L26L		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCTGCTGTCTCAAAAGATTCA	0.388000													13	73					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727747	7727747	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:7727747C>G	ENST00000283147.6	+	1	718	c.559C>G	c.(559-561)Ctt>Gtt	p.L187V		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	187					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCAAGAGCCTTCTGGCCCC	0.711000													6	12					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27805184	27805184	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:27805184G>A	ENST00000408964.2	+	1	5796	c.5745G>A	c.(5743-5745)atG>atA	p.M1915I		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1915	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCTCTGAGATGAGGCCAGGGA	0.597000													27	119					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41475890	41475890	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:41475890G>T	ENST00000372621.4	+	18	2257	c.1749G>T	c.(1747-1749)ctG>ctT	p.L583L	CTPS1_ENST00000372616.1_Silent_p.L583L|CTPS1_ENST00000541520.1_Silent_p.L352L	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	583					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TCACCGAACTGAAGTTTCCAT	0.403000													5	157					0.014758	0.0150053	1	1	0
C6orf10	10665	broad.mit.edu	37	6	32260983	32260983	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:32260983C>G	ENST00000375015.4	-	26	1664	c.1464G>C	c.(1462-1464)aaG>aaC	p.K488N	C6orf10_ENST00000533191.1_Missense_Mutation_p.K487N|C6orf10_ENST00000375007.4_Missense_Mutation_p.K487N|C6orf10_ENST00000447241.2_Missense_Mutation_p.K489N|C6orf10_ENST00000442822.2_Intron|C6orf10_ENST00000527965.1_Missense_Mutation_p.K473N			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	489	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						AACTCTCCTTCTTTTCTTGGG	0.378000													20	86					0	0	1	0	0
ING4	51147	broad.mit.edu	37	12	6765959	6765959	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:6765959C>G	ENST00000341550.4	-	2	89	c.43G>C	c.(43-45)Gaa>Caa	p.E15Q	ING4_ENST00000446105.2_Missense_Mutation_p.E15Q|ING4_ENST00000396807.4_Missense_Mutation_p.E15Q|ING4_ENST00000412586.2_Missense_Mutation_p.E15Q|ING4_ENST00000444704.2_Intron|ING4_ENST00000423703.2_Missense_Mutation_p.E15Q			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	15					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GGAAGGTTTTCAATACCTAGG	0.428000													8	91					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89844165	89844165	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:89844165G>C	ENST00000370456.4	+	5	711	c.618G>C	c.(616-618)ctG>ctC	p.L206L	GBP6_ENST00000535065.1_Silent_p.L76L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	206							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		CCTTGAAGCTGATTCAAGGTA	0.483000													5	44					0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064527	30064527	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:30064527G>C	ENST00000201979.2	+	2	572	c.279G>C	c.(277-279)aaG>aaC	p.K93N	DEFB124_ENST00000481595.1_5'UTR	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	93					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAGTGGGGAAGACCAGCTTGG	0.592000													6	98					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105912470	105912470	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:105912470G>A	ENST00000372548.4	+	13	2456	c.2347G>A	c.(2347-2349)Gac>Aac	p.D783N	CXorf57_ENST00000372544.2_Missense_Mutation_p.D686N	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	783										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ATCTCAAATAGACACACTGTT	0.423000													9	80					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21383307	21383307	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:21383307C>T	ENST00000400602.2	-	11	1443	c.1408G>A	c.(1408-1410)Gat>Aat	p.D470N	XPO4_ENST00000255305.6_Missense_Mutation_p.D470N	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	470					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGTCTCGATCATCCTCTTGA	0.438000													25	64					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33811703	33811703	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:33811703C>T	ENST00000403368.1	-	6	715	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	FAM98A_ENST00000238823.8_Missense_Mutation_p.E216K|FAM98A_ENST00000441530.2_Missense_Mutation_p.E21K	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	217										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCCGGACTTCATATTCATTG	0.363000													16	61					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62226531	62226531	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:62226531C>G	ENST00000261517.5	-	49	5829		c.e49-1		VPS13C_ENST00000395898.3_Splice_Site|VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCTTCTTGTTCTAATGGTGAA	0.279000													7	51					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303784	5303784	+	Missense_Mutation	SNP	A	A	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:5303784A>T	ENST00000274181.7	+	20	3229	c.3091A>T	c.(3091-3093)Acc>Tcc	p.T1031S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1031	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			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						CGCTGTCTGCACCTCCGAGCC	0.652000													4	52					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563201	45563201	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:45563201G>C	ENST00000379161.4	-	1	417	c.371C>G	c.(370-372)tCt>tGt	p.S124C	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	124					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AAACCTATCAGAAGACTGTCT	0.537000													4	15					0	0	1	0	0
DARS2	55157	broad.mit.edu	37	1	173806108	173806108	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:173806108G>A	ENST00000361951.4	+	8	1421	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	232					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	ACCATCCAGGGAACCTGGAAA	0.383000													6	263					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82387946	82387946	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:82387946C>G	ENST00000333891.9	-	25	15711	c.15374G>C	c.(15373-15375)aGa>aCa	p.R5125T		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATTCTTTTTCTGAGATCCAC	0.388000													15	150					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132334580	132334580	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:132334580G>C	ENST00000360564.1	+	9	1540	c.1438G>C	c.(1438-1440)Gac>Cac	p.D480H	MMP17_ENST00000535004.1_Missense_Mutation_p.D20H|MMP17_ENST00000535291.1_Missense_Mutation_p.D396H	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	480	Hemopexin-like 4.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CAGCACGCTGGACGACGCCAT	0.682000													6	28					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744420	744420	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:744420G>C	ENST00000381944.3	-	3	1036	c.795C>G	c.(793-795)atC>atG	p.I265M	SLC52A3_ENST00000217254.7_Missense_Mutation_p.I265M|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	265					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										CCCGCGGCCGGATGGAGTGGA	0.652000													9	54					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3188482	3188482	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3188482C>T	ENST00000396878.3	+	3	938	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	ZNF213_ENST00000416391.2_Silent_p.L21L|ZNF213_ENST00000574902.1_Missense_Mutation_p.P155S|ZNF213_ENST00000576416.1_Missense_Mutation_p.P155S	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	155					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CACGGGGCCTCCCCCGACGGT	0.677000													9	54					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74274460	74274460	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:74274460G>A	ENST00000295897.4	+	4	509	c.420G>A	c.(418-420)gtG>gtA	p.V140V	ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000509063.1_Silent_p.V140V|ALB_ENST00000503124.1_Intron|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	140	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.V140V(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CCCGATTGGTGAGACCAGAGG	0.393000													4	74					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153735313	153735313	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:153735313C>G	ENST00000456435.1	+	15	2194	c.1008C>G	c.(1006-1008)ctC>ctG	p.L336L	INTS3_ENST00000512605.1_Silent_p.L336L|INTS3_ENST00000318967.2_Silent_p.L542L|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Silent_p.L542L			Q68E01	INT3_HUMAN	integrator complex subunit 3	543					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGAGGATCTCAACAGCAAAG	0.522000													5	157					0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9759783	9759783	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:9759783C>T	ENST00000383832.3	+	16	1192	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	CPNE9_ENST00000383831.3_Silent_p.L334L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	334	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCATGGCCCTCAAGGCAGTGG	0.587000													19	53					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42600415	42600415	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:42600415C>G	ENST00000372901.1	+	12	1665	c.1407C>G	c.(1405-1407)ttC>ttG	p.F469L	UBR2_ENST00000372883.3_5'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.F469L			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	469					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TACAAGCCTTCAAATTTAGGA	0.318000													10	30					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58490578	58490578	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:58490578C>G	ENST00000357552.3	-	9	766	c.541G>C	c.(541-543)Gac>Cac	p.D181H	SYCP2_ENST00000371001.2_Missense_Mutation_p.D181H			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	181					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCATTTTGTCAAGCATAGCA	0.279000													12	76					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784667	140784667	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140784667G>T	ENST00000573521.1	+	1	2148	c.2148G>T	c.(2146-2148)ctG>ctT	p.L716L	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCAGGCTGAGGCACTGGC	0.597000													17	89					3.52763e-06	3.78282e-06	1	1	0
BIVM	54841	broad.mit.edu	37	13	103459698	103459698	+	Silent	SNP	G	G	A	rs142016216		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:103459698G>A	ENST00000257336.1	+	3	760	c.81G>A	c.(79-81)gaG>gaA	p.E27E	BIVM_ENST00000491929.1_3'UTR|BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Silent_p.E27E	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing									p.E27D(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CACCTGAAGAGAATCTACAAG	0.438000													23	36					0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115980411	115980411	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:115980411G>C	ENST00000251864.2	+	19	2732	c.2579G>C	c.(2578-2580)aGa>aCa	p.R860T	TDRD1_ENST00000422662.1_Missense_Mutation_p.R464T|TDRD1_ENST00000369282.1_Missense_Mutation_p.R860T|TDRD1_ENST00000369281.2_Missense_Mutation_p.R746T|TDRD1_ENST00000369280.1_Missense_Mutation_p.R860T	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	860					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTGCAAGCCAGAGTGGTTGAA	0.388000													12	28					0	0	1	0	0
ZNF599	148103	broad.mit.edu	37	19	35258247	35258247	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:35258247C>G	ENST00000587354.2	-	3	602	c.215G>C	c.(214-216)aGa>aCa	p.R72T	ZNF599_ENST00000329285.8_Missense_Mutation_p.R72T|ZNF599_ENST00000588760.1_Missense_Mutation_p.R72T			Q96NL3	ZN599_HUMAN	zinc finger protein 599		KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAGAGGCCTCTCTTCACTGT	0.542000													7	59					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142510607	142510607	+	Missense_Mutation	SNP	C	C	G	rs150897330		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:142510607C>G	ENST00000367630.4	+	5	514	c.456C>G	c.(454-456)atC>atG	p.I152M	VTA1_ENST00000367621.1_Missense_Mutation_p.I94M|VTA1_ENST00000452973.2_Missense_Mutation_p.I94M|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	152	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAACATACATCCATAATTGTT	0.343000													5	28					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142561848	142561848	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:142561848G>A	ENST00000392957.2	+	7	1077	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.R97Q	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	97						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTTGTGGAGCGGCGCGGGGCC	0.657000													99	192					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32078103	32078103	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:32078103C>G	ENST00000342704.6	+	1	211	c.30C>G	c.(28-30)ttC>ttG	p.F10L	CBFA2T2_ENST00000375279.2_5'UTR	NM_001032999.2	NP_001028171.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2							nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CGGCCGCCTTCCAGCGTAAGT	0.791000													3	24					0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915029	39915029	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:39915029G>C	ENST00000425673.1	+	17	3494	c.3169G>C	c.(3169-3171)Gat>Cat	p.D1057H	PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D1027H|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D1086H|PLEKHG2_ENST00000409797.2_Intron			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1086					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.D1044H(1)|p.D1027H(1)|p.D1086H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGCAGCCTGGATCCCCAGGG	0.582000													5	209					0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38799208	38799208	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:38799208C>G	ENST00000308979.2	-	4	1518	c.1245G>C	c.(1243-1245)aaG>aaC	p.K415N	TLR1_ENST00000502213.2_Missense_Mutation_p.K415N	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	415					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTCTCCTTTCTTTTCATCAT	0.318000													6	39					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114927	53114927	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:53114927G>C	ENST00000375442.4	+	6	1485	c.1353G>C	c.(1351-1353)aaG>aaC	p.K451N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	451					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ATGACATCAAGATCTCTGACT	0.458000													7	164					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36657945	36657945	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:36657945C>T	ENST00000431169.1	-	10	1009	c.709G>A	c.(709-711)Gat>Aat	p.D237N	AOAH_ENST00000535891.1_Missense_Mutation_p.D205N|AOAH_ENST00000258749.5_Missense_Mutation_p.D237N	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	237					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TCTTTTGGATCGACACCCTTT	0.323000													4	112					0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78059852	78059852	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:78059852G>A	ENST00000397545.4	+	14	2313	c.2286G>A	c.(2284-2286)ctG>ctA	p.L762L	CCDC40_ENST00000374877.3_Silent_p.L762L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	762					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGAGCAAGCTGATCGACGAGC	0.582000													36	161					0	0	1	0	0
STEAP1	26872	broad.mit.edu	37	7	89793863	89793863	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:89793863G>C	ENST00000297205.2	+	5	1035	c.835G>C	c.(835-837)Gat>Cat	p.D279H	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	279					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TAAGTGGATAGATATAAAACA	0.358000													12	129					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33568428	33568428	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:33568428C>T	ENST00000262873.7	+	6	608	c.516C>T	c.(514-516)ctC>ctT	p.L172L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	130	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			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)			ACAAATGGCTCCCAGTCTATA	0.512000													39	328					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140280971	140280971	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:140280971C>G	ENST00000296543.5	+	12	1655	c.1332C>G	c.(1330-1332)atC>atG	p.I444M	NAA15_ENST00000398947.1_Missense_Mutation_p.I444M	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	444					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ACAGATTTATCAACTCCAAAT	0.388000													5	46					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109520488	109520488	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:109520488G>C	ENST00000257548.5	+	10	981	c.888G>C	c.(886-888)ttG>ttC	p.L296F	USP30_ENST00000392784.2_Missense_Mutation_p.L265F	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	296					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGGAACGTTGAACGGGGAAA	0.453000													6	46					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580880	99580880	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:99580880C>G	ENST00000481138.1	-	6	2086	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D	ZNF782_ENST00000535338.1_Missense_Mutation_p.E343D	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CAAAAGGTTTCTCCCCTGTGT	0.423000													22	128					0	0	1	0	0
C5orf45	51149	broad.mit.edu	37	5	179264766	179264766	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:179264766G>C	ENST00000403396.2	-	8	800	c.783C>G	c.(781-783)atC>atG	p.I261M	C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.I164M|C5orf45_ENST00000521333.1_Missense_Mutation_p.P106A|C5orf45_ENST00000518235.1_Missense_Mutation_p.I219M|C5orf45_ENST00000523084.1_Missense_Mutation_p.I85M|SQSTM1_ENST00000376929.3_3'UTR|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000520698.1_Missense_Mutation_p.I164M|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000292586.6_Missense_Mutation_p.I219M			Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	219										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						TAACCTGCTGGATGGGACTCC	0.567000													8	54					0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49294701	49294701	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49294701G>C	ENST00000438782.1	+	8	2007	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	CCDC36_ENST00000296449.5_Missense_Mutation_p.D591H|CCDC36_ENST00000452691.2_Missense_Mutation_p.D591H			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	591										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TAGCAGTGATGATGATGGCTT	0.478000													35	137					0	0	1	0	0
CAMK4	814	broad.mit.edu	37	5	110560284	110560284	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:110560284G>T	ENST00000282356.4	+	1	501	c.103G>T	c.(103-105)Gac>Tac	p.D35Y	CAMK4_ENST00000512453.1_Missense_Mutation_p.D35Y	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	35					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTACTGGATCGACGGCTCCAA	0.687000													7	27					0.000157383	0.000164971	1	1	0
IGLV2-8	28817	broad.mit.edu	37	22	23165548	23165548	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:23165548C>G	ENST00000390317.2	+	0	281																											GTCACCATCTCCTGCACTGGA	0.557000													62	323					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266208	38266208	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:38266208C>G	ENST00000379705.3	-	4	2019	c.1162G>C	c.(1162-1164)Gac>Cac	p.D388H	TRPC4_ENST00000379681.3_Missense_Mutation_p.D388H|TRPC4_ENST00000355779.2_Missense_Mutation_p.D388H|TRPC4_ENST00000426868.2_Missense_Mutation_p.D388H|TRPC4_ENST00000379673.2_Missense_Mutation_p.D388H|TRPC4_ENST00000338947.5_Missense_Mutation_p.D215H|TRPC4_ENST00000447043.1_Missense_Mutation_p.D388H|TRPC4_ENST00000379679.1_Missense_Mutation_p.D215H|TRPC4_ENST00000358477.2_Missense_Mutation_p.D388H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	388					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTGACCTGTCGATGTGCTGA	0.448000													3	37					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55243187	55243187	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:55243187G>T	ENST00000251091.5	+	9	2014	c.1709G>T	c.(1708-1710)aGc>aTc	p.S570I	SAMD4A_ENST00000357634.3_Missense_Mutation_p.S657I|SAMD4A_ENST00000554335.1_Missense_Mutation_p.S658I|SAMD4A_ENST00000555192.1_Missense_Mutation_p.S249I|SAMD4A_ENST00000392067.3_Missense_Mutation_p.S658I	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	658					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CGCACCCACAGCTCAGTCCAG	0.597000													33	224					9.65963e-10	1.06114e-09	1	1	0
RNF7	9616	broad.mit.edu	37	3	141464003	141464003	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:141464003G>C	ENST00000273480.3	+	3	364	c.226G>C	c.(226-228)Gtc>Ctc	p.V76L	RNF7_ENST00000480908.1_Missense_Mutation_p.V60L|RNF7_ENST00000393000.3_Missense_Mutation_p.W73C	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	76					anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						TCTTTCAGTGGTCTGGGGAGA	0.383000													4	26					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156444934	156444934	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:156444934G>C	ENST00000348159.4	-	9	1452	c.972C>G	c.(970-972)ctC>ctG	p.L324L	MEF2D_ENST00000464356.2_Silent_p.L316L|MEF2D_ENST00000368240.2_Silent_p.L317L|MEF2D_ENST00000353795.3_Silent_p.L278L|MEF2D_ENST00000340875.5_Silent_p.L323L|MEF2D_ENST00000360595.3_Silent_p.L317L	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	324					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGAGAAGGGGAGGCCCTGGC	0.562000													23	171					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488787	61488787	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:61488787G>C	ENST00000335351.3	-	4	1290	c.1198C>G	c.(1198-1200)Caa>Gaa	p.Q400E	TCFL5_ENST00000217162.5_Missense_Mutation_p.Q352E	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	400					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)					TCCCTACGTTGAGACCTTCCT	0.547000													32	136					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589643	156589643	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:156589643G>C	ENST00000302938.4	-	2	1728	c.1633C>G	c.(1633-1635)Cct>Gct	p.P545A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	545						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTGAACCAGGAGTGGCCCTG	0.463000													11	155					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186008022	186008022	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:186008022C>G	ENST00000271588.4	+	38	6142	c.5913C>G	c.(5911-5913)aaC>aaG	p.N1971K	HMCN1_ENST00000367492.2_Missense_Mutation_p.N1971K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1971	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTCTTGAACAGAGGACAGA	0.393000													12	53					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517658	195517658	+	Missense_Mutation	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:195517658T>G	ENST00000463781.3	-	2	1252	c.793A>C	c.(793-795)Aca>Cca	p.T265P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T265P|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	270					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTGTCACTGTTATCTTCTCT	0.483000													7	62					0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100118982	100118982	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:100118982C>G	ENST00000330710.5	+	2	775	c.677C>G	c.(676-678)tCg>tGg	p.S226W	HHIPL1_ENST00000357223.2_Missense_Mutation_p.S226W	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	226					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CCCGACCGCTCGAGGCTGGGG	0.682000													7	21					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532442	1532442	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:1532442C>A	ENST00000381623.3	-	2	1505	c.316G>T	c.(316-318)Gaa>Taa	p.E106*	SIRPD_ENST00000381621.1_Nonsense_Mutation_p.E106*			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	106	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGAGAGATTTCACGGATGCGG	0.448000													5	87					0.00116845	0.00120541	1	1	0
C3	718	broad.mit.edu	37	19	6712594	6712594	+	Silent	SNP	G	G	T	rs138833296		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:6712594G>T	ENST00000245907.6	-	10	1136	c.1044C>A	c.(1042-1044)atC>atA	p.I348I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	348					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAGAGGTCACGATGGGGATCC	0.602000													13	189					4.93089e-13	5.49304e-13	1	1	0
SORCS2	57537	broad.mit.edu	37	4	7728564	7728564	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:7728564C>T	ENST00000507866.2	+	21	2912	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	SORCS2_ENST00000329016.9_Missense_Mutation_p.R763C	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	935						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGCGACGTGCGTGTGACGGT	0.652000													4	169					0	0	1	0	0
MRPS22	56945	broad.mit.edu	37	3	139074558	139074558	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:139074558C>T	ENST00000495075.1	+	9	1345	c.913C>T	c.(913-915)Cac>Tac	p.H305Y	MRPS22_ENST00000478464.1_Missense_Mutation_p.H264Y|MRPS22_ENST00000310776.4_Missense_Mutation_p.H305Y|MRPS22_ENST00000465056.1_Missense_Mutation_p.H304Y			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	305						mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						CCAGCTGTATCACGTGCTCCA	0.413000													5	50					0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801438	148801438	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:148801438G>C	ENST00000378061.2	-	4	1657	c.1525C>G	c.(1525-1527)Cag>Gag	p.Q509E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	509					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGCGACTGCTGAGAAAAGGTC	0.637000													11	76					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155158282	155158282	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:155158282G>A	ENST00000357232.4	-	25	6156	c.6157C>T	c.(6157-6159)Ctt>Ttt	p.L2053F		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTATCCAGAAGTAATACGGGA	0.383000													14	19					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24747806	24747806	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:24747806C>G	ENST00000545231.1	-	9	1588	c.438G>C	c.(436-438)ttG>ttC	p.L146F	DFNA5_ENST00000342947.3_Missense_Mutation_p.L310F|DFNA5_ENST00000409775.3_Missense_Mutation_p.L310F|DFNA5_ENST00000409970.1_Missense_Mutation_p.L146F|DFNA5_ENST00000419307.1_Missense_Mutation_p.L146F			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	310					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AGATGTCACTCAAAGCTGTCT	0.517000													10	34					0	0	1	0	0
RNF14	9604	broad.mit.edu	37	5	141354380	141354380	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:141354380G>C	ENST00000394520.2	+	4	475	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	RNF14_ENST00000394515.3_Missense_Mutation_p.E56Q|RNF14_ENST00000356143.1_Missense_Mutation_p.E56Q|RNF14_ENST00000502341.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394519.1_Missense_Mutation_p.E56Q|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000347642.3_Missense_Mutation_p.E56Q	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	56	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		CAATTCAAATGAGTGTCTCCA	0.438000													4	67					0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99729273	99729273	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:99729273C>G	ENST00000389677.5	-	6	1279	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	FAXC_ENST00000538471.1_Missense_Mutation_p.E53Q|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	333																	TGGTGCCACTCTGGCCAAAAT	0.488000													6	56					0	0	1	0	0
AP3S2	10239	broad.mit.edu	37	15	90380876	90380876	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:90380876C>G	ENST00000336418.4	-	5	816	c.424G>C	c.(424-426)Gag>Cag	p.E142Q	AP3S2_ENST00000558011.1_Missense_Mutation_p.E154Q|AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000560940.1_Missense_Mutation_p.E142Q|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.E343Q	NM_005829.4	NP_005820.1			adaptor-related protein complex 3, sigma 2 subunit											NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTTTGAGCCTCAATCTGAGCC	0.507000													13	50					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511537	169511537	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:169511537G>C	ENST00000367796.3	-	13	3007	c.2806C>G	c.(2806-2808)Ctg>Gtg	p.L936V	F5_ENST00000367797.3_Missense_Mutation_p.L931V			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	931	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGAGTAACAGATCACTAGGA	0.463000													12	192					0	0	1	0	0
DNM1L	10059	broad.mit.edu	37	12	32866193	32866193	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:32866193C>T	ENST00000452533.2	+	6	671	c.507C>T	c.(505-507)ctC>ctT	p.L169L	DNM1L_ENST00000553257.1_Silent_p.L182L|DNM1L_ENST00000358214.5_Silent_p.L182L|DNM1L_ENST00000266481.6_Silent_p.L169L|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_Silent_p.L182L|DNM1L_ENST00000549701.1_Silent_p.L169L|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000547312.1_Silent_p.L169L	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	169	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCAGAGAGCTCATTCTTCGGT	0.393000													4	71					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130760918	130760918	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:130760918G>C	ENST00000276708.4	-	14	2237	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	452						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GTGGGGCGAGGAGCTCAGGTT	0.547000													12	92					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436697	248436697	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:248436697C>G	ENST00000318021.2	-	1	441	c.420G>C	c.(418-420)ctG>ctC	p.L140L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGTCATCCTCAGGCACAGCT	0.582000													24	125					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105253536	105253536	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:105253536G>C	ENST00000306107.5	+	6	1077	c.577G>C	c.(577-579)Gac>Cac	p.D193H	ALCAM_ENST00000486979.2_Missense_Mutation_p.D142H|ALCAM_ENST00000472644.2_Missense_Mutation_p.D193H|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Missense_Mutation_p.D2H	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	193	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAGGAAATGGACCCAGTGAC	0.423000													11	85					0	0	1	0	0
DHRS4L1	728635	broad.mit.edu	37	14	24505729	24505729	+	RNA	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:24505729G>C	ENST00000558293.1	+	0	68					NR_102693.1																						GCGCGGCTACGAGGCCACTGT	0.667000													3	35					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39390620	39390620	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:39390620C>G	ENST00000545653.1	-	5	918	c.388G>C	c.(388-390)Gac>Cac	p.D130H	DAB2_ENST00000509337.1_Missense_Mutation_p.D130H|DAB2_ENST00000339788.6_Missense_Mutation_p.D130H|DAB2_ENST00000320816.6_Missense_Mutation_p.D130H|DAB2_ENST00000512525.1_5'UTR	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	130	PID.				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCCCGGTTGTCTGTCACATCA	0.393000													18	65					0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31927109	31927109	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:31927109C>T	ENST00000375394.2	+	2	171	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	20						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CCTACCCCTTCGGGCCGTGGA	0.572000													13	331					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1031129	1031129	+	Silent	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:1031129C>A	ENST00000263097.4	+	2	486	c.123C>A	c.(121-123)ctC>ctA	p.L41L	CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Silent_p.L41L|CNN2_ENST00000565096.2_Silent_p.L41L|CNN2_ENST00000562958.2_Silent_p.L41L	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	41	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGAGGGACTCACCGGCCTCT	0.597000													21	74					4.35082e-09	4.76144e-09	1	1	0
CLEC4F	165530	broad.mit.edu	37	2	71043350	71043350	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:71043350C>G	ENST00000272367.2	-	4	1239	c.1163G>C	c.(1162-1164)aGa>aCa	p.R388T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.R388T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	388					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CTGTATCTCTCTGCTGGCATT	0.423000													5	63					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47085746	47085746	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:47085746C>G	ENST00000457458.2	+	9	1299	c.879C>G	c.(877-879)ctC>ctG	p.L293L	CDK16_ENST00000518022.1_Silent_p.L287L|CDK16_ENST00000357227.4_Silent_p.L287L|CDK16_ENST00000276052.6_Silent_p.L361L	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	287	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						ACCGAGACCTCAAGCCCCAGA	0.602000													5	50					0	0	1	0	0
C11orf72	100505621	broad.mit.edu	37	11	67372204	67372204	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:67372204C>G	ENST00000333139.3	-	3	577	c.337G>C	c.(337-339)Gat>Cat	p.D113H	C11orf72_ENST00000446232.1_Missense_Mutation_p.D113H			Q8NBR9	CK072_HUMAN	chromosome 11 open reading frame 72	113										central_nervous_system(1)|lung(2)|stomach(1)	4						ccacagccatctatcactgtg	0.527000													17	26					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67706528	67706528	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:67706528C>G	ENST00000545606.1	+	15	4048	c.3611C>G	c.(3610-3612)tCt>tGt	p.S1204C		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1204					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CAGATCAGTTCTAACCCTGAG	0.438000													6	77					0	0	1	0	0
PSME3	10197	broad.mit.edu	37	17	40986883	40986883	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:40986883G>C	ENST00000293362.3	+	4	394	c.233G>C	c.(232-234)gGa>gCa	p.G78A	PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.G17A|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000590720.1_Missense_Mutation_p.G78A|PSME3_ENST00000441946.2_Missense_Mutation_p.G89A	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	78					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|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AGCCATGATGGACTGGATGGT	0.438000													48	51					0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89474820	89474820	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:89474820G>A	ENST00000361175.4	+	6	1087	c.718G>A	c.(718-720)Gag>Aag	p.E240K	PAPSS2_ENST00000456849.1_Missense_Mutation_p.E240K|PAPSS2_ENST00000427144.2_Missense_Mutation_p.E244K	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	240					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGTCCGAGCTGAGGCTGAAAC	0.363000													12	17					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505005	159505005	+	Missense_Mutation	SNP	T	T	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:159505005T>A	ENST00000334857.2	-	1	837	c.793A>T	c.(793-795)Agt>Tgt	p.S265C		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TCTATTGAACTTTCTGACTTC	0.493000													17	96					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1065165	1065165	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:1065165G>C	ENST00000263094.6	+	46	6511	c.6280G>C	c.(6280-6282)Gag>Cag	p.E2094Q	ABCA7_ENST00000435683.2_Missense_Mutation_p.E1956Q|ABCA7_ENST00000433129.1_Missense_Mutation_p.E2094Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2094					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACGATGCTGGAGGAGGTGAT	0.736000											OREG0025112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	15					0	0	1	0	0
AZIN1	51582	broad.mit.edu	37	8	103841608	103841608	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:103841608C>A	ENST00000337198.5	-	11	2290	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V	AZIN1_ENST00000347770.4_Missense_Mutation_p.G376V	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	376					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AAGCCAATCTCCCACATTCAG	0.423000													88	71					1.63053e-22	1.8384e-22	1	1	0
KIAA1984	84960	broad.mit.edu	37	9	139699882	139699882	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:139699882G>C	ENST00000338005.6	+	9	956	c.921G>C	c.(919-921)aaG>aaC	p.K307N	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	307										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGAAGGTCAAGAGTGCTGTAC	0.597000													3	41					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726037	15726037	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:15726037G>C	ENST00000378076.3	-	4	887	c.534C>G	c.(532-534)ttC>ttG	p.F178L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	178					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATAGGCGCTGAAGTTCTGAA	0.458000													4	71					0	0	1	0	0
SGK494	124923	broad.mit.edu	37	17	26938792	26938792	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:26938792C>T	ENST00000301037.5	-	8	714	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K	RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_3'UTR|SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA	NM_001174103.1	NP_001167574.1																					TTACCTCGTTCATCTAGAAGA	0.433000													52	189					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													5	113					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47739054	47739054	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:47739054C>G	ENST00000263773.5	-	17	2986	c.2974G>C	c.(2974-2976)Gag>Cag	p.E992Q		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	992										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GCATTTCTCTCTGCCATGCCA	0.328000													16	23					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5853336	5853336	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:5853336G>A	ENST00000327087.8	-	12	1397	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	ANO2_ENST00000546188.1_Silent_p.F443F|ANO2_ENST00000356134.5_Silent_p.F443F	NM_001278597.1	NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	447						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACAGAGCCATGAAGATAGAGA	0.542000													37	84					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1065158	1065158	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:1065158G>C	ENST00000263094.6	+	46	6504	c.6273G>C	c.(6271-6273)acG>acC	p.T2091T	ABCA7_ENST00000435683.2_Silent_p.T1953T|ABCA7_ENST00000433129.1_Silent_p.T2091T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	2091					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCCAGACGATGCTGGAGG	0.731000											OREG0025112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	16					0	0	1	0	0
SSH2	85464	broad.mit.edu	37	17	27958627	27958627	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:27958627G>A	ENST00000269033.3	-	15	3655	c.3504C>T	c.(3502-3504)ctC>ctT	p.L1168L	SSH2_ENST00000540801.1_Silent_p.L1195L|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1168					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCACTGGAGAGAGGGCTCT	0.512000													9	57					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29220939	29220939	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:29220939G>A	ENST00000321990.4	+	21	5446	c.5068G>A	c.(5068-5070)Gat>Aat	p.D1690N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1690					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGGACTTTGTGATGAGTTTAG	0.388000													24	147					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58870364	58870364	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:58870364C>T	ENST00000472469.1	-	6	845	c.7G>A	c.(7-9)Gat>Aat	p.D3N	RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.D83N|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000295966.7_Missense_Mutation_p.D83N|RP11-147N17.1_ENST00000492031.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	83										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TGTGGAACATCTGTCATTAGT	0.398000													6	118					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851731	43851731	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:43851731G>C	ENST00000372769.3	+	2	1548	c.1458G>C	c.(1456-1458)caG>caC	p.Q486H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	486	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGAGCACGCAGAAAGATGTAT	0.388000													14	68					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701030	192701030	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:192701030C>T	ENST00000304141.4	-	2	1226	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	299						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGACTTTCTTCCGCCCGAAAG	0.483000													5	106					0	0	1	0	0
KRT19	3880	broad.mit.edu	37	17	39684475	39684475	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:39684475A>G	ENST00000361566.3	-	1	85	c.25T>C	c.(25-27)Tcg>Ccg	p.S9P		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				GTGGCCGACGACTGGCGATAG	0.706000													27	19					0	0	1	0	0
RAET1E	135250	broad.mit.edu	37	6	150211075	150211075	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:150211075C>G	ENST00000532335.1	-	3	638	c.292G>C	c.(292-294)Ggg>Cgg	p.G98R	RAET1E_ENST00000529948.1_Missense_Mutation_p.G98R|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000367363.3_Missense_Mutation_p.G62R|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000357183.4_Missense_Mutation_p.G98R	NM_001243328.1	NP_001230257.1	Q8TD07	N2DL4_HUMAN	retinoic acid early transcript 1E	98	MHC class I alpha-1 like.				antigen processing and presentation|immune response|regulation of immune response	integral to membrane|MHC class I protein complex	protein binding			cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		AGGTCTCGCCCCACTTCTCCC	0.532000													16	44					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49576222	49576222	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:49576222G>C	ENST00000244051.1	+	1	860	c.843G>C	c.(841-843)ctG>ctC	p.L281L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	281					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity	p.L281L(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						TTGATGCCCTGAGAGGGCATT	0.607000													6	87					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653120	159653120	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:159653120C>T	ENST00000297267.9	+	11	1776	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R463C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	526						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCAGCTTCGCGCCAAGAA	0.562000													4	33					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19544087	19544087	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:19544087G>T	ENST00000507958.1	-	11	2271	c.1281C>A	c.(1279-1281)gaC>gaA	p.D427E	CDH18_ENST00000511273.1_Missense_Mutation_p.D427E|CDH18_ENST00000506372.1_Missense_Mutation_p.D427E|CDH18_ENST00000274170.4_Missense_Mutation_p.D427E|CDH18_ENST00000382275.1_Missense_Mutation_p.D427E|CDH18_ENST00000502796.1_Missense_Mutation_p.D427E			Q13634	CAD18_HUMAN	cadherin 18, type 2	427	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAAATCTGTCGTCTTCAACAT	0.348000													5	35					0.00116845	0.00120541	1	1	0
REC8	9985	broad.mit.edu	37	14	24648858	24648858	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:24648858C>T	ENST00000311457.3	+	18	1973	c.1374C>T	c.(1372-1374)ctC>ctT	p.L458L	REC8_ENST00000559919.1_Silent_p.L458L|REC8_ENST00000559939.1_3'UTR			O95072	REC8_HUMAN	REC8 meiotic recombination protein	459	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)		TGCCTGAACTCCCTGAGGTGC	0.622000													7	84					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107790384	107790384	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:107790384G>C	ENST00000379028.3	-	33	4356	c.3886C>G	c.(3886-3888)Cct>Gct	p.P1296A	NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000413765.2_Missense_Mutation_p.P1172A|NRCAM_ENST00000379024.4_Missense_Mutation_p.P1184A|NRCAM_ENST00000425651.2_Missense_Mutation_p.P1296A|NRCAM_ENST00000351718.4_Missense_Mutation_p.P1175A			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1296					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GCGTTGACAGGAGAAGGTGCC	0.418000													9	156					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8616627	8616627	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:8616627G>C	ENST00000337907.3	-	7	1266	c.632C>G	c.(631-633)tCt>tGt	p.S211C	RERE_ENST00000400908.2_Missense_Mutation_p.S211C|RERE_ENST00000400907.2_Missense_Mutation_p.S211C	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	211	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCTCTTCCAGAGTCTGTCAA	0.358000													10	148					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44140778	44140778	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:44140778C>T	ENST00000398776.1	+	6	668	c.630C>T	c.(628-630)ttC>ttT	p.F210F	CAPN11_ENST00000542245.1_Silent_p.F210F	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	210	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCAGTGAGTTCTGGAGTGCCC	0.572000											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	24					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073001	197073001	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:197073001G>C	ENST00000367409.4	-	18	5636	c.5380C>G	c.(5380-5382)Cag>Gag	p.Q1794E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1794					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTCCTCTGATTGACCTGT	0.363000													5	71					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53950497	53950497	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:53950497G>A	ENST00000454407.1	+	0	429							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CCCGGAAGAGGAAGAGGAGAG	0.448000													5	57					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127764253	127764253	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:127764253C>G	ENST00000336505.6	-	12	1193	c.1135G>C	c.(1135-1137)Gat>Cat	p.D379H	SCAI_ENST00000373549.4_Missense_Mutation_p.D402H|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						CCTTCACTATCAGAACGACCT	0.468000													11	136					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15610402	15610402	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:15610402C>G	ENST00000427411.1	-	4	605	c.389G>C	c.(388-390)gGa>gCa	p.G130A	ACE2_ENST00000252519.3_Missense_Mutation_p.G130A	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	130					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ACAAACTTTTCCAGTACTGTA	0.313000													4	172					0	0	1	0	0
CIDECP	152302	broad.mit.edu	37	3	10059559	10059559	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:10059559C>G	ENST00000432401.1	-	0	505																											GGCCCCTAGTCTAGTCCTTCA	0.607000													4	78					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564158	37564158	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:37564158G>A	ENST00000300651.6	-	17	4539	c.4316C>T	c.(4315-4317)tCc>tTc	p.S1439F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1439	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTTGGAGTGGAACCACTGAT	0.502000										HNSCC(31;0.082)			11	120					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143920	61143920	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:61143920C>G	ENST00000475015.1	-	0	418				C20orf166-AS1_ENST00000412495.1_RNA																							CCGGGACCCTCTGGTCTGTGC	0.662000													8	53					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38940217	38940217	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:38940217C>G	ENST00000487273.2	+	17	2017	c.1939C>G	c.(1939-1941)Cag>Gag	p.Q647E	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	647	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTGTGATGTTCAGAAAAAGTG	0.353000													4	30					0	0	1	0	0
RFPL2	10739	broad.mit.edu	37	22	32586929	32586929	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:32586929C>G	ENST00000400236.3	-	5	1902	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	RFPL2_ENST00000248980.4_Missense_Mutation_p.E262Q|RFPL2_ENST00000400237.1_Missense_Mutation_p.E323Q|RFPL2_ENST00000248983.4_Missense_Mutation_p.E233Q|RFPL2_ENST00000489846.1_5'UTR	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	323	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GAACCACTTTCAGCATCAAAA	0.493000													13	42					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44040317	44040317	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:44040317G>C	ENST00000543989.1	-	9	2414	c.709C>G	c.(709-711)Cca>Gca	p.P237A	ABCG5_ENST00000405322.1_Missense_Mutation_p.P461A|ABCG5_ENST00000260645.1_Missense_Mutation_p.P632A			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	632	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACAAGAGCTGGAATAAATGAA	0.398000													15	8					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32046839	32046839	+	Missense_Mutation	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:32046839A>C	ENST00000375244.3	-	11	4547	c.4346T>G	c.(4345-4347)gTg>gGg	p.V1449G	TNXB_ENST00000375247.2_Missense_Mutation_p.V1449G			P22105	TENX_HUMAN	tenascin XB	1536					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCGGGCCCACGCGCTGCCC	0.672000													8	63					0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887079	25887079	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:25887079G>A	ENST00000376351.3	+	11	2883	c.2524G>A	c.(2524-2526)Gag>Aag	p.E842K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	842						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.E842K(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCAAGAGGAGGAGACAACAGA	0.483000													11	223					0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262347	15262347	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:15262347C>G	ENST00000256953.2	-	5	633	c.297G>C	c.(295-297)aaG>aaC	p.K99N	RERG_ENST00000546331.1_Missense_Mutation_p.K80N|RERG_ENST00000536465.1_Missense_Mutation_p.K99N|RERG_ENST00000538313.1_Missense_Mutation_p.K99N	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	99					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CTAGGATGTTCTTAAGTGGCA	0.488000													15	419					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167654657	167654657	+	Splice_Site	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:167654657G>C	ENST00000367854.3	+	3	439		c.e3-1		RCSD1_ENST00000537350.1_Intron	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1											NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTCCCTCCAGACACCAGCCA	0.552000													15	93					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98392323	98392323	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:98392323C>G	ENST00000186436.5	-	32	4531	c.4303G>C	c.(4303-4305)Gaa>Caa	p.E1435Q		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1435	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AGGAGCGGTTCTGTGTCAGGG	0.517000													9	24					0	0	1	0	0
STON1	11037	broad.mit.edu	37	2	48808169	48808169	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:48808169C>T	ENST00000309835.3	+	1	407	c.397C>T	c.(397-399)Cat>Tat	p.H133Y	STON1_ENST00000406226.1_Missense_Mutation_p.H133Y|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.H133Y|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.H133Y|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.H133Y|STON1_ENST00000404752.1_Missense_Mutation_p.H133Y|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.H133Y|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.H133Y					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATGTTTATCCCATGCCTTGTT	0.453000													4	84					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716587	74716587	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:74716587G>C	ENST00000294064.4	+	3	1363	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	NEU3_ENST00000532963.1_Missense_Mutation_p.R75T|NEU3_ENST00000545272.1_Missense_Mutation_p.E37Q|NEU3_ENST00000531509.1_Missense_Mutation_p.E146Q|NEU3_ENST00000529024.1_Missense_Mutation_p.R75T|NEU3_ENST00000544263.1_Missense_Mutation_p.E113Q	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	146										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CCATGTCACAGAGCGTCAACA	0.542000													5	87					0	0	1	0	0
STK16	8576	broad.mit.edu	37	2	220111532	220111532	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:220111532C>T	ENST00000409638.3	+	3	412	c.240C>T	c.(238-240)ctC>ctT	p.L80L	STK16_ENST00000409516.3_Intron|STK16_ENST00000486813.1_Intron|STK16_ENST00000409260.1_Silent_p.L125L|STK16_ENST00000409743.1_Silent_p.L80L|STK16_ENST00000396738.2_Silent_p.L80L	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	80	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCCTCGTGGCTTACT	0.582000													5	12					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151874020	151874020	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:151874020C>T	ENST00000355193.2	-	38	8736	c.8518G>A	c.(8518-8520)Gaa>Aaa	p.E2840K	KMT2C_ENST00000262189.6_Missense_Mutation_p.E2840K					lysine (K)-specific methyltransferase 2C																		TCATTTTTTTCAGTTTCACAT	0.378000													20	72					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164087786	164087786	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:164087786G>C	ENST00000274054.2	-	1	287	c.94C>G	c.(94-96)Ccg>Gcg	p.P32A	NAF1_ENST00000422287.2_Missense_Mutation_p.P32A	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	32					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GCAGAGCCCGGAGACGGAGCC	0.662000													10	9					0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60228255	60228255	+	Nonstop_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:60228255G>C	ENST00000371218.4	+	17	1911	c.1727G>C	c.(1726-1728)tGa>tCa	p.*576S	FGGY_ENST00000371212.1_Nonstop_Mutation_p.*464S|FGGY_ENST00000371210.1_Nonstop_Mutation_p.*253S|FGGY_ENST00000303721.7_Nonstop_Mutation_p.*552S|RP4-782L23.2_ENST00000443012.1_RNA	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	0					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AATGATGACTGAACAGGGCTT	0.403000													13	24					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595286	44595286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:44595286C>T	ENST00000372299.3	+	2	401	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	115					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GATTTACTGTCAGAGAATGTC	0.552000													11	283					0	0	1	0	0
ITPRIPL2	162073	broad.mit.edu	37	16	19127032	19127032	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:19127032C>A	ENST00000381440.3	+	1	1779	c.1249C>A	c.(1249-1251)Cgc>Agc	p.R417S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	417						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						AGTGCTGCTGCGCAAGGGGGC	0.647000													29	185					5.77227e-19	6.48852e-19	1	1	0
GFPT1	2673	broad.mit.edu	37	2	69590794	69590794	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:69590794C>T	ENST00000357308.4	-	4	410	c.232G>A	c.(232-234)Gat>Aat	p.D78N	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.D78N	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	78	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						AAATCCATATCTTGTTGCTCT	0.368000													14	21					0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222827622	222827622	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:222827622G>A	ENST00000344922.5	+	16	4384	c.4359G>A	c.(4357-4359)caG>caA	p.Q1453Q	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.Q1453Q|MIA3_ENST00000340535.7_Silent_p.Q331Q	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1453					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAATTAAGCAGATGATGGATG	0.338000													9	44					0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141243809	141243809	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:141243809G>A	ENST00000287008.3	-	3	2234	c.2087C>T	c.(2086-2088)tCa>tTa	p.S696L	PCDH1_ENST00000536585.1_Missense_Mutation_p.S674L|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.S684L|PCDH1_ENST00000394536.3_Missense_Mutation_p.S696L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	696	Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AACGTAAGCTGAGCGAGGTGG	0.557000													5	55					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940276	70940276	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:70940276G>A	ENST00000359655.4	+	1	289	c.229G>A	c.(229-231)Gac>Aac	p.D77N	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	77					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCAGCGCCGACGGCGACGT	0.652000													34	78					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927096	130927096	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:130927096G>A	ENST00000261655.4	-	8	913	c.750C>T	c.(748-750)aaC>aaT	p.N250N	RIMBP2_ENST00000535703.1_Silent_p.N158N|RIMBP2_ENST00000536002.1_Silent_p.N158N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	250						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGTTGATGAAGTTCTGATCCT	0.602000													19	86					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33751585	33751585	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:33751585C>T	ENST00000504830.1	-	3	893	c.558G>A	c.(556-558)gaG>gaA	p.E186E	ADAMTS12_ENST00000515401.1_Silent_p.E186E|ADAMTS12_ENST00000352040.3_Silent_p.E186E|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	186					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTACCCTCCCTCAACCAGTG	0.438000										HNSCC(64;0.19)			74	83					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72040517	72040517	+	RNA	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:72040517C>T	ENST00000343721.5	-	0	1156				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTTGTTCTTTCTCTGATGTCT	0.408000													14	52					0	0	1	0	0
GOSR2	9570	broad.mit.edu	37	17	45008505	45008505	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:45008505C>T	ENST00000415811.2	+	3	190	c.135C>T	c.(133-135)ttC>ttT	p.F45F	GOSR2_ENST00000393456.2_Silent_p.F45F|RP11-156P1.2_ENST00000571841.1_Silent_p.F45F|GOSR2_ENST00000576910.2_Silent_p.F45F|GOSR2_ENST00000225567.4_Silent_p.F45F|GOSR2_ENST00000439730.2_Silent_p.F45F|GOSR2_ENST00000575949.1_Silent_p.F45F	NM_001012511.1	NP_001012529.1	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	45					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ACCAGATATTCAGCCGTCTAG	0.398000													12	39					0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24837358	24837358	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:24837358C>T	ENST00000337539.7	+	3	1599	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|ADORA2A-AS1_ENST00000543438.1_RNA	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	380					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ACACGGGCCTCCCAGACGTGG	0.657000													11	19					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84694869	84694869	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:84694869C>G	ENST00000284136.6	-	6	633		c.e6-1		SEMA3D_ENST00000444867.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGGTACTCATCTGAGAGGGAG	0.413000													9	54					0	0	1	0	0
COX5A	9377	broad.mit.edu	37	15	75221517	75221517	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:75221517C>G	ENST00000322347.6	-	2	310	c.157G>C	c.(157-159)Gat>Cat	p.D53H	COX5A_ENST00000562233.1_Missense_Mutation_p.D53H|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000568783.1_Missense_Mutation_p.D53H|COX5A_ENST00000564811.1_Missense_Mutation_p.D53H	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	53					respiratory electron transport chain	mitochondrial inner membrane	cytochrome-c oxidase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|pancreas(1)	3						CAGCGAGCATCAAACTCCTCA	0.398000													24	55					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524913	10524913	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:10524913G>C	ENST00000396560.2	+	3	663	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.E146Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.E146Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.E146Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAACGATTCTGAGCATCAGAC	0.438000													5	89					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559803	140559803	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:140559803G>C	ENST00000239444.2	+	1	2433	c.2188G>C	c.(2188-2190)Gag>Cag	p.E730Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		730					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGTGCCTGAGGGCCCCTT	0.642000													9	148					0	0	1	0	0
ANAPC7	51434	broad.mit.edu	37	12	110832930	110832930	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:110832930G>C	ENST00000455511.3	-	3	486	c.486C>G	c.(484-486)atC>atG	p.I162M	ANAPC7_ENST00000450008.2_Missense_Mutation_p.I162M|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	162					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GTCTTGAAGGGATCCCATCAA	0.373000													22	61					0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30006059	30006059	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30006059G>C	ENST00000279392.3	-	4	1237	c.407C>G	c.(406-408)tCa>tGa	p.S136*	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	136	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						AACTGCCTTTGAGGCTCGCCT	0.597000													39	175					0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101606434	101606434	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:101606434G>A	ENST00000310954.6	-	3	982	c.696C>T	c.(694-696)ttC>ttT	p.F232F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	232					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTCCCAAGATGAAGACATACA	0.408000													6	36					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152034465	152034465	+	Missense_Mutation	SNP	A	A	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:152034465A>G	ENST00000370274.3	+	6	840	c.646A>G	c.(646-648)Atc>Gtc	p.I216V	NSDHL_ENST00000440023.1_Missense_Mutation_p.I216V	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	216					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	ACCCATCCTCATCGAGGCAGC	0.562000													14	116					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26155999	26155999	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:26155999C>G	ENST00000381655.2	+	23	2192	c.2050C>G	c.(2050-2052)Caa>Gaa	p.Q684E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.Q644E|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	644					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATCGCCTTCAAGCAGGAGT	0.393000													6	93					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056370	7056370	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:7056370C>G	ENST00000310074.7	+	2	1041	c.852C>G	c.(850-852)ctC>ctG	p.L284L	TADA2B_ENST00000512388.1_Silent_p.L209L|TADA2B_ENST00000515646.1_Silent_p.L192L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						AAAAAATGCTCCGGGCCAAGA	0.532000													13	55					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167855723	167855723	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:167855723C>A	ENST00000265293.4	+	13	2433	c.1931C>A	c.(1930-1932)tCa>tAa	p.S644*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.S644*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	644					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTGGGTGCTTCAGAAGCTGCT	0.527000													5	37					0.00198382	0.00203771	1	1	0
POLM	27434	broad.mit.edu	37	7	44121992	44121992	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:44121992C>T	ENST00000242248.5	-	1	147	c.46G>A	c.(46-48)Gat>Aat	p.D16N	POLM_ENST00000395831.3_Missense_Mutation_p.D16N|POLM_ENST00000335195.6_Missense_Mutation_p.D16N	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	16					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GAAGCGGCATCGCCGCTAGGG	0.711000								DNA polymerases (catalytic subunits)					3	14					0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53702751	53702751	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:53702751C>A	ENST00000209873.4	-	10	1154	c.989G>T	c.(988-990)cGc>cTc	p.R330L	AAAS_ENST00000394384.3_Missense_Mutation_p.R297L|AAAS_ENST00000550286.1_Missense_Mutation_p.R206L	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	330					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						TACCTGACAGCGCCCTGATAG	0.537000													11	217					3.07112e-06	3.29463e-06	1	1	0
CTC1	80169	broad.mit.edu	37	17	8140816	8140816	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:8140816C>A	ENST00000315684.8	-	5	676	c.669G>T	c.(667-669)caG>caT	p.Q223H	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	223					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CCAGGTTTCGCTGCACACCTC	0.483000													4	47					0.150653	0.15135	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68217813	68217813	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:68217813C>G	ENST00000347230.4	-	41	7510	c.7372G>C	c.(7372-7374)Gag>Cag	p.E2458Q	ZFYVE26_ENST00000557306.1_Splice_Site_p.E304Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2458					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCCTCCAGCTCCTGTGCAGAA	0.542000													6	53					0	0	1	0	0
CAPZB	832	broad.mit.edu	37	1	19810691	19810691	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:19810691G>C	ENST00000433834.1	-	1	467	c.83C>G	c.(82-84)tCg>tGg	p.S28W	CAPZB_ENST00000264202.6_Intron|CAPZB_ENST00000401084.2_Intron|CAPZB_ENST00000482808.1_Intron|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000375142.1_Intron			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	0					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CACCTGATCCGAGGGACTTCC	0.552000													7	20					0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108686333	108686333	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:108686333C>G	ENST00000565488.1	-	8	1150		c.e8-1		SLC25A24_ENST00000370041.4_Splice_Site	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TTTTCATAACCTGGATATAAA	0.338000													8	39					0	0	1	0	0
ZNF570	148268	broad.mit.edu	37	19	37974798	37974798	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:37974798G>C	ENST00000330173.1	+	5	803	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	ZNF570_ENST00000388801.3_5'UTR|ZNF570_ENST00000586475.1_Missense_Mutation_p.E148Q	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTATATGTGAGACTGAAGA	0.318000													9	136					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816162	29816162	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:29816162G>A	ENST00000561482.1	+	12	2138	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	KIF22_ENST00000160827.4_Missense_Mutation_p.E569K|KIF22_ENST00000569382.2_Missense_Mutation_p.E515K|KIF22_ENST00000400751.5_Missense_Mutation_p.E501K	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	569					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CCTAGAGCCTGAGGAGAAGGC	0.597000													6	7					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092230	35092230	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:35092230G>A	ENST00000378617.3	-	7	2048	c.1654C>T	c.(1654-1656)Ctc>Ttc	p.L552F	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.L552F|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	552					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AACAGCAGGAGTAACAGGACG	0.572000													4	79					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	30002515	30002515	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:30002515G>A	ENST00000279394.3	+	19	3179	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	815					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CATCCCGGCTGAAGCTGCTGC	0.687000													7	79					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34868416	34868416	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:34868416G>C	ENST00000356487.5	+	5	652	c.411G>C	c.(409-411)cgG>cgC	p.R137R	GPI_ENST00000586425.1_Silent_p.R137R|GPI_ENST00000415930.3_Intron	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	137					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					AGCGTGTCCGGAGCGGTGACT	0.572000													4	133					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55222194	55222194	+	RNA	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:55222194G>A	ENST00000413439.1	+	0	1718																											GGTCTCAGGTGAGGCCGCTGA	0.632000													7	56					0	0	1	0	0
INTS5	80789	broad.mit.edu	37	11	62414512	62414512	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:62414512G>C	ENST00000330574.2	-	2	3092	c.3040C>G	c.(3040-3042)Ctc>Gtc	p.L1014V		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	1014					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TGTCGAAGGAGAGTGGACGGT	0.597000													44	40					0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51178298	51178298	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:51178298C>T	ENST00000216139.5	+	3	498	c.458C>T	c.(457-459)tCg>tTg	p.S153L	ACR_ENST00000529621.1_Missense_Mutation_p.S153L	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	153	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCTCCCATTTCGTGTGGGCGC	0.547000													25	72					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917593	99917593	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:99917593G>C	ENST00000332397.6	+	10	1814	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167H	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	544								p.D544N(1)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGGGCGCGAGATCGCGCCCA	0.582000													7	126					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152751672	152751672	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:152751672C>G	ENST00000367255.5	-	35	5235	c.4634G>C	c.(4633-4635)gGa>gCa	p.G1545A	SYNE1_ENST00000367253.4_Missense_Mutation_p.G1545A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G1545A|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1552A|SYNE1_ENST00000341594.5_Missense_Mutation_p.G1615A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G1552A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1545					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGGATTGTTCCTTCCAGACA	0.398000										HNSCC(10;0.0054)			9	82					0	0	1	0	0
MRRF	92399	broad.mit.edu	37	9	125042729	125042729	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:125042729G>C	ENST00000344641.3	+	3	503	c.192G>C	c.(190-192)ggG>ggC	p.G64G	MRRF_ENST00000373723.5_Silent_p.G64G|MRRF_ENST00000394315.3_Silent_p.G64G|MRRF_ENST00000373729.1_Silent_p.G20G|MRRF_ENST00000546115.1_Silent_p.G64G|MRRF_ENST00000373730.3_Silent_p.G64G|MRRF_ENST00000373724.1_3'UTR|MRRF_ENST00000297908.3_Intron	NM_138777.3	NP_620132.1	Q96E11	RRFM_HUMAN	mitochondrial ribosome recycling factor	64					ribosome disassembly|translation	mitochondrion	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	12						TAGCCAAAGGGAAAGGACAGT	0.383000													13	40					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121405751	121405751	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:121405751G>A	ENST00000231004.4	-	6	1543	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	415	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		CACTTACGGTGAAATTGTGCA	0.403000													9	23					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68042625	68042625	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:68042625G>C	ENST00000329153.5	+	16	2387	c.2255G>C	c.(2254-2256)gGa>gCa	p.G752A		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	752	PH 2.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TATGAGGCTGGAGGAACCAGA	0.587000													6	41					0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22862930	22862930	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:22862930C>T	ENST00000251822.6	+	3	775	c.238C>T	c.(238-240)Ctg>Ttg	p.L80L	RHOBTB2_ENST00000519685.1_Silent_p.L102L|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR|RHOBTB2_ENST00000522948.1_Silent_p.L87L	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	80	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CAGCGTCTCTCTGCGCCTCTG	0.602000													11	54					0	0	1	0	0
FAM175B	23172	broad.mit.edu	37	10	126490443	126490443	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:126490443C>T	ENST00000298492.5	+	1	90	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	15	MPN-like.					BRISC complex	polyubiquitin binding			NS(1)	1						CTGTGTGTTTCCACAGCGCCA	0.672000													8	97					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17150859	17150859	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:17150859C>G	ENST00000539941.2	-	11	1301	c.1093G>C	c.(1093-1095)Gag>Cag	p.E365Q	COPS3_ENST00000268717.5_Missense_Mutation_p.E385Q|COPS3_ENST00000439936.2_Missense_Mutation_p.E307Q	NM_001199125.1	NP_001186054.1	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	385					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCATCCAGCTCAATGCACTTC	0.498000													11	137					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40772770	40772770	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:40772770G>A	ENST00000602553.1	-	5	2799	c.2505C>T	c.(2503-2505)ttC>ttT	p.F835F	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Silent_p.F835F			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCTTTGGGAGAAAGTTTTCC	0.418000													16	78					0	0	1	0	0
TRDN	10345	broad.mit.edu	37	6	123892188	123892188	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:123892188C>T	ENST00000334268.4	-	2	429	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	TRDN_ENST00000398178.3_Missense_Mutation_p.E38K|TRDN_ENST00000546248.1_Missense_Mutation_p.E38K|TRDN_ENST00000542443.1_Missense_Mutation_p.E38K			Q13061	TRDN_HUMAN	triadin	38					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		ACTATGTCTTCTGTGACTGTC	0.468000													16	29					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87407147	87407147	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:87407147G>T	ENST00000327946.7	-	13	2090	c.2005C>A	c.(2005-2007)Cag>Aag	p.Q669K	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.Q240K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	669						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GACAGGTCCTGGAAAGTCCTG	0.517000										Multiple Myeloma(13;0.14)			16	147					0.000308642	0.00032197	1	1	0
WNT2	7472	broad.mit.edu	37	7	116937715	116937715	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:116937715G>A	ENST00000265441.3	-	4	1103	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	268					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAAATACACGAGGTCATTTT	0.433000													21	65					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18072957	18072957	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:18072957C>G	ENST00000327451.6	+	11	1441	c.903C>G	c.(901-903)gtC>gtG	p.V301V	SLC25A18_ENST00000399813.1_Silent_p.V301V	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18							integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CTCAAGGGGTCTATTTTATTG	0.527000													9	134					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19473424	19473424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:19473424G>A	ENST00000507958.1	-	15	3274	c.2284C>T	c.(2284-2286)Cag>Tag	p.Q762*	CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000274170.4_Nonsense_Mutation_p.Q762*|CDH18_ENST00000382275.1_Nonsense_Mutation_p.Q762*			Q13634	CAD18_HUMAN	cadherin 18, type 2	762					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGATAATCCTGGTCTGATTGT	0.463000													10	89					0	0	1	0	0
NEURL1	9148	broad.mit.edu	37	10	105344923	105344923	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:105344923C>T	ENST00000369780.4	+	4	1689	c.1280C>T	c.(1279-1281)tCg>tTg	p.S427L	NEURL_ENST00000369777.2_Missense_Mutation_p.S410L	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		427	NHR 2.				nervous system development	perinuclear region of cytoplasm	zinc ion binding	p.S427L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GTGGACGCCTCGCAGCCGCTT	0.687000													5	11					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100087018	100087018	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:100087018C>G	ENST00000423930.1	+	4	1833	c.1674C>G	c.(1672-1674)ctC>ctG	p.L558L	NYAP1_ENST00000454988.1_Silent_p.L501L|NYAP1_ENST00000300179.2_Silent_p.L558L			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	558																	CAGCTGGGCTCAAGAGACCCC	0.672000													12	45					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46801798	46801798	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:46801798G>C	ENST00000529230.1	-	20	2425	c.2379C>G	c.(2377-2379)ttC>ttG	p.F793L	CKAP5_ENST00000415402.1_Missense_Mutation_p.F793L|CKAP5_ENST00000354558.3_Missense_Mutation_p.F793L|CKAP5_ENST00000312055.5_Missense_Mutation_p.F793L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	793					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						CATCCTCAAAGAACATTCGCA	0.433000													5	37					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41973381	41973381	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:41973381G>C	ENST00000216259.7	-	8	814	c.730C>G	c.(730-732)Cag>Gag	p.Q244E		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	244					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						ACCGTGTCCTGAGGAGACACC	0.577000											OREG0026591	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	28					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75387387	75387387	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:75387387G>C	ENST00000297784.5	+	13	1340	c.800G>C	c.(799-801)gGa>gCa	p.G267A	TMC1_ENST00000340019.3_Missense_Mutation_p.G267A|TMC1_ENST00000396237.3_Missense_Mutation_p.G267A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	267					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CGAACAATTGGATGGATGAAT	0.403000													19	188					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907304	11907304	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:11907304C>A	ENST00000376480.3	-	2	414	c.316G>T	c.(316-318)Gat>Tat	p.D106Y	NPPA-AS1_ENST00000446542.1_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.D56Y|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	106					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATCGATCAGAGGAGTCC	0.667000													16	103					2.31682e-05	2.45615e-05	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92764315	92764315	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:92764315G>C	ENST00000318238.4	-	5	2186	c.970C>G	c.(970-972)Cag>Gag	p.Q324E	SAMD9L_ENST00000437805.1_Missense_Mutation_p.Q324E|SAMD9L_ENST00000411955.1_Missense_Mutation_p.Q324E	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	324										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTTGCATCTGAATGTAGAAA	0.348000													6	102					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8029550	8029550	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:8029550G>C	ENST00000447017.2	-	12	1222	c.1203C>G	c.(1201-1203)ctC>ctG	p.L401L	ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000341937.5_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000545242.1_Intron	NM_001130083.1	NP_001123555.1	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	401					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGGAGAGGCAGCTAC	0.557000													6	58					0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76818087	76818087	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:76818087G>C	ENST00000338487.5	-	1	185	c.186C>G	c.(184-186)ctC>ctG	p.L62L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	62	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGCCAATGTAGAGCTTGGGCC	0.647000													7	32					0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46661554	46661554	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:46661554G>A	ENST00000396420.3	-	6	1099	c.463C>T	c.(463-465)Cat>Tat	p.H155Y	POMGNT1_ENST00000371984.3_Missense_Mutation_p.H155Y|POMGNT1_ENST00000535522.1_Missense_Mutation_p.H133Y|POMGNT1_ENST00000371992.1_Missense_Mutation_p.H155Y|POMGNT1_ENST00000371986.3_Missense_Mutation_p.H155Y			Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	155					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)					TCATCCTCATGAGGTGAGTAC	0.557000													4	45					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930332	47930332	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:47930332G>C	ENST00000289672.2	-	16	2533	c.2483C>G	c.(2482-2484)tCc>tGc	p.S828C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	828	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATGTGCTGGGGAGCCAGCGGT	0.582000													6	51					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152486108	152486108	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:152486108C>T	ENST00000427231.2	-	68	9978	c.9776G>A	c.(9775-9777)cGa>cAa	p.R3259Q	NEB_ENST00000409198.1_Missense_Mutation_p.R3016Q|NEB_ENST00000172853.10_Missense_Mutation_p.R3016Q|NEB_ENST00000603639.1_Missense_Mutation_p.R3259Q|NEB_ENST00000604864.1_Missense_Mutation_p.R3259Q|NEB_ENST00000397345.3_Missense_Mutation_p.R3259Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3259					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCGTCACTTCGCAAGTCGTA	0.443000													10	60					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697088	51697088	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:51697088C>T	ENST00000409535.2	+	22	4181	c.4056C>T	c.(4054-4056)ccC>ccT	p.P1352P	RAD54L2_ENST00000296477.3_Silent_p.P1046P	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CAGCAGGCCCCGTCAGTTCCT	0.572000													57	85					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108467964	108467964	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:108467964C>G	ENST00000374688.1	+	2	747	c.37C>G	c.(37-39)Cta>Gta	p.L13V	TMEM38B_ENST00000374692.3_Missense_Mutation_p.L67V			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	67						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TTTATCCTGTCTACTGCTTGC	0.438000													5	56					0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80550929	80550929	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:80550929G>C	ENST00000424301.2	+	6	803	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.E189Q|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.E189Q	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	189	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	AAGGGAGGTAGAGAACGTGGC	0.662000													13	65					0	0	1	0	0
PODXL2	50512	broad.mit.edu	37	3	127358213	127358213	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:127358213G>A	ENST00000342480.6	+	2	235	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	66					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGAGCCTAGTGAGACCATGGG	0.627000													4	35					0	0	1	0	0
ITM2B	9445	broad.mit.edu	37	13	48830439	48830439	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:48830439G>C	ENST00000378565.5	+	3	576	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	ITM2B_ENST00000378549.5_Intron	NM_021999.4	NP_068839.1	Q9Y287	ITM2B_HUMAN	integral membrane protein 2B	125					nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTTTGAAGAAGAAGAAGTTGA	0.398000													5	24					0	0	1	0	0
UGGT2	55757	broad.mit.edu	37	13	96508535	96508535	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:96508535C>T	ENST00000376747.3	-	34	3955	c.3885G>A	c.(3883-3885)agG>agA	p.R1295R		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1295	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AACGGGGCCACCTATATTGAA	0.383000													30	91					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848597	79848597	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:79848597G>A	ENST00000331204.4	-	2	363	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	ALYREF_ENST00000505490.2_Silent_p.L120L|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	113	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CCAAAATCCAGATTGGACACC	0.567000													16	130					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58983359	58983359	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:58983359G>C	ENST00000536459.2	+	4	2209	c.1500G>C	c.(1498-1500)caG>caC	p.Q500H	ZNF324_ENST00000196482.3_Missense_Mutation_p.Q500H|ZNF324_ENST00000535298.1_Missense_Mutation_p.Q277H			O75467	Z324A_HUMAN	zinc finger protein 324	500					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCACCACCAGAGGATCCATA	0.677000													4	61					0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19373563	19373563	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:19373563G>A	ENST00000379806.5	+	8	959	c.814G>A	c.(814-816)Gag>Aag	p.E272K	PDHA1_ENST00000540249.1_Missense_Mutation_p.E203K|PDHA1_ENST00000545074.1_Missense_Mutation_p.E241K|PDHA1_ENST00000422285.2_Missense_Mutation_p.E234K	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	234					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	AACGTCTGTTGAGAGAGCGGC	0.512000													140	79					0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113330230	113330230	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:113330230G>A	ENST00000263331.5	+	13	2746	c.2166G>A	c.(2164-2166)gtG>gtA	p.V722V	POLR1B_ENST00000541869.1_Silent_p.V760V|POLR1B_ENST00000537335.1_Silent_p.V511V|POLR1B_ENST00000417433.2_Silent_p.V666V|POLR1B_ENST00000409894.3_Silent_p.V539V	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	722					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTCCCTTGGTGAGACCCTCCA	0.428000													13	63					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24584832	24584832	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:24584832G>C	ENST00000446197.3	+	2	756	c.29G>C	c.(28-30)gGa>gCa	p.G10A	DCAF11_ENST00000396941.4_Missense_Mutation_p.G10A|DCAF11_ENST00000396936.1_5'UTR|DCAF11_ENST00000559115.1_Missense_Mutation_p.G10A|DCAF11_ENST00000560171.1_3'UTR	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	10						CUL4 RING ubiquitin ligase complex	protein binding										AGCAGTGCAGGATCCGGGTCC	0.607000													5	150					0	0	1	0	0
ZNF75D	7626	broad.mit.edu	37	X	134421478	134421478	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:134421478C>G	ENST00000370766.3	-	7	3833	c.1124G>C	c.(1123-1125)aGa>aCa	p.R375T	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.R280T	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	375					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGAGCTAACTCTGAAGCTTTT	0.413000													5	36					0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123355551	123355551	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:123355551C>G	ENST00000267202.2	-	2	550	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q		NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	57	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		AGGTTTCCTTCTGCCAGGCTC	0.458000													9	56					0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367281	367281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:367281C>G	ENST00000240499.7	+	4	1204	c.1055C>G	c.(1054-1056)tCa>tGa	p.S352*	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	352					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGACAGTCCTCAAAACTGAAT	0.423000													5	52					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	419525	419525	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:419525G>C	ENST00000256509.2	+	16	2418	c.1776G>C	c.(1774-1776)ttG>ttC	p.L592F	CHL1_ENST00000397491.2_Missense_Mutation_p.L576F|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	576	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAGCTAATTTGACCATATCTA	0.343000													5	63					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9309864	9309864	+	Missense_Mutation	SNP	T	T	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:9309864T>C	ENST00000261336.2	-	28	3485	c.3457A>G	c.(3457-3459)Aag>Gag	p.K1153E	PZP_ENST00000381997.2_Missense_Mutation_p.K939E	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AGCAATGCCTTGGTGTAGACA	0.473000													16	102					0	0	1	0	0
DEK	7913	broad.mit.edu	37	6	18237725	18237725	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:18237725C>G	ENST00000397239.3	-	8	1232	c.785G>C	c.(784-786)aGa>aCa	p.R262T	DEK_ENST00000244776.7_Missense_Mutation_p.R228T	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	262					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			AGGTTTTTCTCTTTTGGCTGT	0.368000			T	NUP214	AML								4	31					0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167798585	167798585	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:167798585G>C	ENST00000367848.1	-	26	3891	c.3394C>G	c.(3394-3396)Ctt>Gtt	p.L1132V	ADCY10_ENST00000545172.1_Missense_Mutation_p.L1071V|ADCY10_ENST00000367851.4_Missense_Mutation_p.L1224V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1224					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CAGTGAAAAAGATAACTGTAG	0.423000													18	142					0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7518504	7518504	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:7518504C>G	ENST00000593531.1	+	10	1316	c.1316C>G	c.(1315-1317)tCa>tGa	p.S439*	ARHGEF18_ENST00000319670.9_Silent_p.L323L|ARHGEF18_ENST00000359920.6_Silent_p.L481L																							CCAGCAAACTCAAGAACGGGC	0.557000													17	85					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38833582	38833582	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:38833582G>A	ENST00000449082.2	-	2	347	c.348C>T	c.(346-348)ttC>ttT	p.F116F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	116					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGATCAGGTTGAAAGGACTGA	0.468000													14	229					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57559689	57559689	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:57559689G>C	ENST00000243077.3	+	16	3098	c.2632G>C	c.(2632-2634)Gat>Cat	p.D878H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	878	LDL-receptor class A 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGAGACAACGATTGCCTGGA	0.647000													10	86					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44833847	44833847	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44833847G>C	ENST00000354340.4	-	4	514	c.463C>G	c.(463-465)Cat>Gat	p.H155D	ZNF112_ENST00000337401.4_Missense_Mutation_p.H161D|CTC-512J12.6_ENST00000588212.1_Intron|ZNF112_ENST00000536500.1_Missense_Mutation_p.H178D	NM_013380.3	NP_037512.3			zinc finger protein 112																		TTCCCTATATGAGTGAATATA	0.388000													5	97					0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55188448	55188448	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:55188448G>C	ENST00000371281.3	+	5	657	c.570G>C	c.(568-570)atG>atC	p.M190I	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	190							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						TTCTGGAAATGAGGGCTAAAG	0.453000													14	158					0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33686911	33686911	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr21:33686911C>G	ENST00000399786.3	+	5	443	c.256C>G	c.(256-258)Cga>Gga	p.R86G	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Missense_Mutation_p.R86G	NM_206898.1	NP_996781.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	0					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						GCCTCAAACTCGAGCTATTTC	0.473000													3	42					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1387516	1387516	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:1387516G>T	ENST00000359786.5	-	2	481	c.157C>A	c.(157-159)Ctg>Atg	p.L53M	MYO1C_ENST00000575158.1_Missense_Mutation_p.L18M|MYO1C_ENST00000361007.2_Missense_Mutation_p.L18M|MYO1C_ENST00000545534.2_Missense_Mutation_p.L29M|MYO1C_ENST00000438665.2_Missense_Mutation_p.L34M	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	53	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTCTCCAGCAGCACGAAATCC	0.637000													8	43					5.18039e-06	5.54602e-06	1	1	0
SCG2	7857	broad.mit.edu	37	2	224462269	224462269	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:224462269C>G	ENST00000305409.2	-	2	1964	c.1732G>C	c.(1732-1734)Gat>Cat	p.D578H		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	578					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTGGGGTATCATCATTCTTC	0.493000													7	64					0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505755	159505755	+	Missense_Mutation	SNP	A	A	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:159505755A>C	ENST00000334857.2	-	1	87	c.43T>G	c.(43-45)Ttg>Gtg	p.L15V		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GAAAATCCCAAGAAAATGAAT	0.363000													7	164					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761792	150761792	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:150761792G>A	ENST00000485713.1	+	4	1437	c.397G>A	c.(397-399)Gag>Aag	p.E133K	SLC4A2_ENST00000392826.2_Missense_Mutation_p.E124K|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E133K|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E51K|SLC4A2_ENST00000461735.1_Missense_Mutation_p.E119K	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	133	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGGCCAGCGAGGCTGAGGG	0.701000													15	58					0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105517397	105517397	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:105517397G>C	ENST00000329797.3	-	4	1988	c.1077C>G	c.(1075-1077)ttC>ttG	p.F359L	GPR132_ENST00000539291.2_Missense_Mutation_p.F359L|GPR132_ENST00000392585.2_Missense_Mutation_p.F350L	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	359					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGGGCCTGGAGAAGGTGTAGT	0.632000													15	41					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49446779	49446779	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:49446779G>C	ENST00000301067.7	-	8	1030	c.1031C>G	c.(1030-1032)tCt>tGt	p.S344C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GTGACAGAGAGAGTAGTTCTC	0.602000													11	164					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22294333	22294333	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:22294333C>G	ENST00000324559.8	+	19	2350	c.2033C>G	c.(2032-2034)aCt>aGt	p.T678S	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	678						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTACAGTTACTCAATTTGGA	0.398000													4	35					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13330474	13330474	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:13330474G>A	ENST00000396920.3	-	6	917	c.513C>T	c.(511-513)ctC>ctT	p.L171L	PHYH_ENST00000396913.2_Silent_p.L88L|PHYH_ENST00000263038.4_Silent_p.L188L			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	188					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CGCAAACGATGAGATCGCTGG	0.577000													27	84					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17502605	17502605	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:17502605G>C	ENST00000380647.3	+	26	4260	c.4176G>C	c.(4174-4176)aaG>aaC	p.K1392N	CNTLN_ENST00000425824.1_Missense_Mutation_p.K1392N			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	0						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGAAAAAAAGAAACTAGTTG	0.264000													3	7					0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57802864	57802864	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:57802864G>T	ENST00000360338.3	+	3	1277	c.955G>T	c.(955-957)Gag>Tag	p.E319*	ZNF460_ENST00000537645.1_Nonsense_Mutation_p.E278*	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGCTTTTATGAGAGTACAGC	0.473000													15	43					1.05317e-09	1.15499e-09	1	1	0
RGMA	56963	broad.mit.edu	37	15	93595459	93595459	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:93595459C>G	ENST00000329082.7	-	3	680	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	RGMA_ENST00000542321.2_Missense_Mutation_p.E121Q|RGMA_ENST00000543599.1_Missense_Mutation_p.E121Q|RGMA_ENST00000556087.1_Missense_Mutation_p.E121Q|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556658.1_Missense_Mutation_p.E28Q|RGMA_ENST00000557301.1_Missense_Mutation_p.E145Q|RGMA_ENST00000425933.2_Missense_Mutation_p.E121Q|RGMA_ENST00000538818.1_Missense_Mutation_p.E28Q	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	137					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			TCCGAGCGCTCCTGGCTGTCT	0.642000													5	52					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18682425	18682425	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:18682425G>C	ENST00000308799.4	+	12	3219	c.3000G>C	c.(2998-3000)aaG>aaC	p.K1000N	FBXW10_ENST00000395667.1_Missense_Mutation_p.K990N|FBXW10_ENST00000395665.4_Missense_Mutation_p.K991N|FBXW10_ENST00000301938.4_Missense_Mutation_p.K938N			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	991										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TGACCGTGAAGGAGGAGAAGG	0.512000													22	49					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303814	6303814	+	Silent	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:6303814C>G	ENST00000226760.1	+	8	2462	c.2292C>G	c.(2290-2292)ccC>ccG	p.P764P	WFS1_ENST00000503569.1_Silent_p.P764P	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	764					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCAAGCACCCCTGCCACATCA	0.647000													8	58					0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142645	48142645	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:48142645G>C	ENST00000405493.2	-	11	1194	c.985C>G	c.(985-987)Cag>Gag	p.Q329E	RAPGEF3_ENST00000449771.2_Missense_Mutation_p.Q371E|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.Q329E|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.Q329E|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.Q371E|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.Q371E|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.Q329E	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	329					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCGGCGCCCTGAGAGGCTCTC	0.587000													10	155					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60692159	60692159	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:60692159C>T	ENST00000005286.4	+	1	207	c.54C>T	c.(52-54)ggC>ggT	p.G18G	RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000543732.1_3'UTR|TMEM132A_ENST00000453848.2_Silent_p.G18G	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	18						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCCCTACGGCCCCTGGCTCT	0.771000													12	11					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3642827	3642827	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3642827G>C	ENST00000294008.3	-	11	2840	c.2200C>G	c.(2200-2202)Ctg>Gtg	p.L734V		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	734	BTB.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGCTGGGTCAGAACCCCGTCC	0.567000								Direct reversal of damage					4	34					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145106228	145106228	+	Nonstop_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:145106228C>G	ENST00000426825.1	-	28	3947	c.3866G>C	c.(3865-3867)tGa>tCa	p.*1289S	OPLAH_ENST00000534424.1_5'UTR|CTD-3065J16.6_ENST00000528912.1_RNA	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	0							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-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;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCGGGATCCTCACACGGCCTC	0.687000													16	57					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134117662	134117662	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:134117662C>G	ENST00000452510.2	+	8	1089	c.931C>G	c.(931-933)Caa>Gaa	p.Q311E	DDX46_ENST00000354283.4_Missense_Mutation_p.Q311E	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	311					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACAGGGTATCAAACAAAACA	0.348000													7	16					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224703	42224703	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:42224703C>G	ENST00000541110.1	-	11	3102	c.2534G>C	c.(2533-2535)aGa>aCa	p.R845T	TRERF1_ENST00000372917.4_Missense_Mutation_p.R742T|TRERF1_ENST00000372922.4_Missense_Mutation_p.R825T|TRERF1_ENST00000340840.2_Missense_Mutation_p.R742T|TRERF1_ENST00000354325.2_Missense_Mutation_p.R742T			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	825	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCAATACCTCTTTGCTGGAG	0.517000													3	67					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20727780	20727780	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:20727780G>C	ENST00000427401.4	-	4	1323	c.1229C>G	c.(1228-1230)tCt>tGt	p.S410C		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	410					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AGTAAGGGAAGAGGAGTACTT	0.423000													4	29					0	0	1	0	0
GREM1	26585	broad.mit.edu	37	15	33023078	33023078	+	Missense_Mutation	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:33023078G>T	ENST00000300177.4	+	2	376	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W	GREM1_ENST00000322805.4_Intron|GREM1_ENST00000560830.1_Intron|GREM1_ENST00000560677.1_Intron	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	63					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GCGGGGCCAAGGGCGGGGCAC	0.662000													12	50					4.3838e-07	4.73596e-07	1	1	0
TRPC7	57113	broad.mit.edu	37	5	135549150	135549150	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:135549150C>T	ENST00000513104.1	-	12	2844	c.2562G>A	c.(2560-2562)ctG>ctA	p.L854L	TRPC7_ENST00000426057.2_Silent_p.L738L|TRPC7_ENST00000355180.3_Silent_p.L793L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	854					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTTCACCCTCAGGTGGTCTT	0.502000													11	18					0	0	1	0	0
ARIH2	10425	broad.mit.edu	37	3	49017852	49017852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49017852C>T	ENST00000356401.4	+	13	1519	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	RP13-131K19.1_ENST00000429681.1_RNA|RP13-131K19.1_ENST00000415982.1_RNA|ARIH2_ENST00000449376.1_Nonsense_Mutation_p.Q394*	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	394					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CGAGAAGATTCAGGAGAGGGT	0.483000													20	42					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161519420	161519420	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr6:161519420C>T	ENST00000392142.4	+	17	3783	c.3635C>T	c.(3634-3636)tCt>tTt	p.S1212F	MAP3K4_ENST00000348824.7_Intron|MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.S1208F	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1212					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GGTGGTGACTCTGTGCTGCCC	0.622000													10	160					0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395484	186395484	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:186395484C>G	ENST00000232003.4	+	7	1470	c.1390C>G	c.(1390-1392)Cta>Gta	p.L464V		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	464	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		ACTCCCTCCTCTAAGAAAAGG	0.552000													8	94					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237791247	237791247	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:237791247C>A	ENST00000366574.2	+	41	6624	c.6307C>A	c.(6307-6309)Cca>Aca	p.P2103T	RYR2_ENST00000542537.1_Missense_Mutation_p.P2087T|RYR2_ENST00000360064.6_Missense_Mutation_p.P2101T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2103	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCGGGCCCTGCCAAAGACCTA	0.562000													3	32					0.115264	0.116154	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18616648	18616648	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:18616648C>G	ENST00000379989.3	+	12	1177	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CDKL5_ENST00000379996.3_Missense_Mutation_p.Q298E	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	298					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CCCTACATTTCAAACCCAGAG	0.378000													10	82					0	0	1	0	0
RRM2	6241	broad.mit.edu	37	2	10262911	10262911	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:10262911C>A	ENST00000360566.2	+	1	457	c.166C>A	c.(166-168)Cgc>Agc	p.R56S	RRM2_ENST00000304567.5_5'UTR	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	0					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		CGCTCTGCTTCGCTGCGCCTC	0.697000													3	11					0.00024832	0.000259354	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131866167	131866167	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:131866167G>C	ENST00000359827.3	-	18	4427	c.3465C>G	c.(3463-3465)ctC>ctG	p.L1155L	PLXNA4_ENST00000321063.4_Silent_p.L1155L			Q9HCM2	PLXA4_HUMAN	plexin A4	1155	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCAGGCTTGAGCTCCAGGA	0.577000													11	187					0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67020969	67020969	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:67020969C>G	ENST00000529006.2	+	19	3424	c.2978C>G	c.(2977-2979)tCt>tGt	p.S993C	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.S451C|KDM2A_ENST00000530342.1_Missense_Mutation_p.S554C|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	993					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TCTGCAGTCTCTGCCCTCAGC	0.532000													15	148					0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80020746	80020746	+	Silent	SNP	G	G	A	rs114799231	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:80020746G>A	ENST00000354321.7	-	4	986	c.501C>T	c.(499-501)gcC>gcT	p.A167A	DUS1L_ENST00000306796.5_Silent_p.A167A			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	167					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGGCAGCCGGCCTTCTCCA	0.612000													15	101					0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54754951	54754951	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:54754951G>C	ENST00000450632.1	-	13	1761	c.1684C>G	c.(1684-1686)Cct>Gct	p.P562A	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	569					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGAGGGAGGAGAGGCCATT	0.572000													3	23					0	0	1	0	0
TMEM55B	90809	broad.mit.edu	37	14	20928361	20928361	+	Silent	SNP	G	G	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:20928361G>T	ENST00000250489.4	-	3	716	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	TMEM55B_ENST00000554028.1_5'UTR|TMEM55B_ENST00000398020.4_Silent_p.R151R			Q86T03	TM55B_HUMAN	transmembrane protein 55B	144						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		CAGTAGGGCCGAGGGCATGCA	0.488000													5	63					3.59834e-05	3.7993e-05	1	1	0
PODXL	5420	broad.mit.edu	37	7	131189123	131189123	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:131189123G>A	ENST00000541194.1	-	9	1887	c.1630C>T	c.(1630-1632)Ctg>Ttg	p.L544L	PODXL_ENST00000322985.9_Silent_p.L510L|PODXL_ENST00000537928.1_Silent_p.L510L|PODXL_ENST00000378555.3_Silent_p.L542L	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	542					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					AGGTTGTCCAGAGGGACGATC	0.587000													14	56					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29221634	29221634	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:29221634C>G	ENST00000321990.4	+	22	5728	c.5350C>G	c.(5350-5352)Ctt>Gtt	p.L1784V		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1784					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAGTCGATCTCTTCTCTATGT	0.338000													6	50					0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297816	139297816	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:139297816C>T	ENST00000406164.1	-	4	643	c.80G>A	c.(79-81)cGa>cAa	p.R27Q	RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000296202.7_Missense_Mutation_p.R64Q|NMNAT3_ENST00000512391.1_Missense_Mutation_p.R64Q|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000511444.1_Missense_Mutation_p.R27Q|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.R27Q			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	64					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CATGGCCACTCGGTGATGAGA	0.572000													12	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431214	179431214	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:179431214C>G	ENST00000589042.1	-	326	79869	c.79645G>C	c.(79645-79647)Gaa>Caa	p.E26549Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E17484Q|TTN_ENST00000359218.5_Missense_Mutation_p.E17609Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E24908Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23981Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17676Q|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24908	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAAATTTCAAATCGAGTG	0.418000													10	84					0	0	1	0	0
GOLGA4	2803	broad.mit.edu	37	3	37369297	37369297	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:37369297G>A	ENST00000361924.2	+	14	6294	c.5920G>A	c.(5920-5922)Gaa>Aaa	p.E1974K	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E1996K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1974	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATATGATCAAGAAAGGGAAGA	0.333000													10	53					0	0	1	0	0
DDX17	10521	broad.mit.edu	37	22	38891004	38891004	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:38891004C>G	ENST00000396821.3	-	7	1027	c.928G>C	c.(928-930)Gag>Cag	p.E310Q	DDX17_ENST00000381633.3_Missense_Mutation_p.E231Q|DDX17_ENST00000432525.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	231					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTTCCTGACTCCAGGAAATCT	0.458000													4	50					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	122000969	122000969	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:122000969G>A	ENST00000265922.3	-	5	1110	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	BRINP1_ENST00000373964.2_Missense_Mutation_p.L217F	NM_014618.2	NP_055433.2			bone morphogenetic protein/retinoic acid inducible neural-specific 1	217																	CTTTGCAGAAGGACGGAACTC	0.498000													6	45					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740956	44740956	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:44740956G>C	ENST00000313040.7	+	6	2578	c.2373G>C	c.(2371-2373)caG>caC	p.Q791H	ZNF227_ENST00000391961.2_Missense_Mutation_p.Q740H|ZNF235_ENST00000589799.1_Intron|ZNF227_ENST00000589005.1_Missense_Mutation_p.Q740H	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CATATCATCAGAAAGTCCATA	0.403000													4	64					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32141510	32141510	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:32141510C>G	ENST00000375250.5	-	6	1346	c.1105G>C	c.(1105-1107)Gat>Cat	p.D369H	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.D322H|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.D322H|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.D369H|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.D369H	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	369	WW 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCTTGATCATCAACATGCTTG	0.323000													8	31					0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430637	181430637	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:181430637G>A	ENST00000325404.1	+	1	916	c.489G>A	c.(487-489)atG>atA	p.M163I	SOX2_ENST00000431565.2_Missense_Mutation_p.M163I	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	163					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACGCGCACATGAACGGCTGGA	0.706000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						3	26					0	0	1	0	0
TTC19	54902	broad.mit.edu	37	17	15928356	15928356	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:15928356C>T	ENST00000261647.5	+	8	1171	c.702C>T	c.(700-702)ctC>ctT	p.L234L	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.L355L	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	234					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATACCCACCTCCTCTTGGGCA	0.478000													7	62					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310803	57310803	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr11:57310803G>C	ENST00000457912.1	+	2	742	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	SMTNL1_ENST00000527972.1_Missense_Mutation_p.E230Q|SMTNL1_ENST00000399154.2_Missense_Mutation_p.E204Q			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	230										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGGTGCAAAAGAGGAGGCTGA	0.567000													5	48					0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661493	180661493	+	Silent	SNP	C	C	A	rs150800185		TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:180661493C>A	ENST00000315073.5	+	6	2321	c.1611C>A	c.(1609-1611)ctC>ctA	p.L537L	TRIM41_ENST00000351937.5_Intron|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	537	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGCCGGCTCCACCTGCCCC	0.657000													8	43					0.000157383	0.000164971	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91747825	91747825	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:91747825C>T	ENST00000389857.6	-	27	4761	c.4675G>A	c.(4675-4677)Gag>Aag	p.E1559K	CCDC88C_ENST00000331194.7_Missense_Mutation_p.E83K	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1559					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGGGGACCTCAAACTCCAGG	0.512000													8	50					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47317392	47317392	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr20:47317392G>A	ENST00000396220.1	-	7	838	c.816C>T	c.(814-816)ctC>ctT	p.L272L	PREX1_ENST00000371941.3_Silent_p.L272L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	272	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTTGCAGGAGGAGCTGAGTGC	0.527000													29	184					0	0	1	0	0
IGKV2-30	28919	broad.mit.edu	37	2	89544386	89544386	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:89544386C>G	ENST00000468494.1	-	0	267																											ACCCCAGAGTCCCGGTTAGAA	0.498000													129	117					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427824	135427824	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chrX:135427824G>C	ENST00000394143.1	+	6	2250	c.1959G>C	c.(1957-1959)gaG>gaC	p.E653D	GPR112_ENST00000287534.4_Missense_Mutation_p.E590D|GPR112_ENST00000394141.1_Missense_Mutation_p.E448D|GPR112_ENST00000370652.1_Missense_Mutation_p.E653D|GPR112_ENST00000412101.1_Missense_Mutation_p.E448D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	653					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCAGCAATGAGACCATTTGGA	0.468000													8	46					0	0	1	0	0
ERP29	10961	broad.mit.edu	37	12	112457617	112457617	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:112457617G>A	ENST00000261735.3	+	2	352	c.202G>A	c.(202-204)Gag>Aag	p.E68K	ERP29_ENST00000455836.1_Intron|ERP29_ENST00000546477.1_5'UTR	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	68					intracellular protein transport|protein folding|protein secretion	endoplasmic reticulum lumen|melanosome	protein disulfide isomerase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						CCCCTACGGTGAGAAGCAGGA	0.532000													6	77					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247887	177247887	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:177247887C>G	ENST00000361539.4	+	7	1513	c.1201C>G	c.(1201-1203)Cat>Gat	p.H401D	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	401																	CAAGCGCTGCCATCGCCAGCC	0.622000													8	223					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242046915	242046915	+	Splice_Site	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:242046915C>G	ENST00000405260.1	-	17	4366		c.e17-1		PASK_ENST00000234040.4_Splice_Site|PASK_ENST00000358649.4_Splice_Site|PASK_ENST00000475666.1_Splice_Site|PASK_ENST00000544142.1_Splice_Site|PASK_ENST00000539818.1_Splice_Site	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase						regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTCATGAGTTCTGGGGACACA	0.572000													35	70					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520977	175520977	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:175520977G>C	ENST00000454872.1	+	14	2502	c.2374G>C	c.(2374-2376)Gat>Cat	p.D792H		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	792					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGTGTCTTGGATGGGAAGAA	0.378000													4	26					0	0	1	0	0
GTF3C4	9329	broad.mit.edu	37	9	135554239	135554239	+	Silent	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:135554239G>C	ENST00000372146.4	+	2	1797	c.1233G>C	c.(1231-1233)ctG>ctC	p.L411L	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	411					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		AAGCAGGGCTGAATGTTCACA	0.453000													7	114					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220342798	220342798	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr2:220342798G>A	ENST00000312358.7	+	22	5130	c.4998G>A	c.(4996-4998)agG>agA	p.R1666R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1666	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTTCGAGAGGCGCCGGGGAC	0.622000													7	49					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101716810	101716810	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr10:101716810G>C	ENST00000342239.3	-	4	512	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Missense_Mutation_p.Q141E			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	141					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCGGAATCTGAAACAGGGCG	0.592000													16	22					0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64114204	64114204	+	Silent	SNP	T	T	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:64114204T>G	ENST00000371083.4	+	8	1583	c.1215T>G	c.(1213-1215)cgT>cgG	p.R405R	PGM1_ENST00000371084.3_Silent_p.R387R|PGM1_ENST00000540265.1_Silent_p.R190R	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	387					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						ACCACATCCGTGAGAAAGATG	0.517000													14	78					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49570458	49570458	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:49570458G>C	ENST00000545947.1	+	6	3236	c.2514G>C	c.(2512-2514)gaG>gaC	p.E838D	DAG1_ENST00000308775.2_Missense_Mutation_p.E838D|DAG1_ENST00000515359.2_Missense_Mutation_p.E838D|DAG1_ENST00000541308.1_Missense_Mutation_p.E838D|DAG1_ENST00000538711.1_Missense_Mutation_p.E838D|DAG1_ENST00000539901.1_Missense_Mutation_p.E838D	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	838	Pro-rich.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GTGTGCCCGAGACCACTCCTC	0.637000													19	65					0	0	1	0	0
CDK11A	728642	broad.mit.edu	37	1	1653101	1653101	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:1653101C>G	ENST00000356200.3	-	2	293	c.59G>C	c.(58-60)aGa>aCa	p.R20T	CDK11A_ENST00000378633.1_Missense_Mutation_p.R54T|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000404249.3_Missense_Mutation_p.R54T|CDK11A_ENST00000358779.5_Missense_Mutation_p.R54T|CDK11A_ENST00000378638.2_Missense_Mutation_p.R20T|CDK11A_ENST00000357760.2_Missense_Mutation_p.R54T|CDK11A_ENST00000378635.3_Missense_Mutation_p.R54T					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						gcagtgatctctcagctcccc	0.438000													6	43					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58563691	58563691	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:58563691C>G	ENST00000267485.7	-	5	2034	c.1840G>C	c.(1840-1842)Gaa>Caa	p.E614Q		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	614	Glu-rich.					integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						tcctcatcttcttGTCCCTCT	0.383000													10	9					0	0	1	0	0
EFNB3	1949	broad.mit.edu	37	17	7612595	7612595	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:7612595G>A	ENST00000226091.2	+	5	1121	c.724G>A	c.(724-726)Gtg>Atg	p.V242M		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	242					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTTGCTGGGCGTGGCAGGGGC	0.711000													14	32					0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48581966	48581966	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:48581966C>T	ENST00000262384.3	-	5	2413	c.2177G>A	c.(2176-2178)aGa>aAa	p.R726K	N4BP1_ENST00000565423.1_5'UTR	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	726					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				CACAAATTCTCTGAAATTATC	0.313000													8	43					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716011	13716011	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:13716011G>A	ENST00000609686.1	-	13	4370	c.4161C>T	c.(4159-4161)ttC>ttT	p.F1387F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGTGGGGATGAAAGGGTTTT	0.622000													8	73					0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561595	29561595	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr15:29561595C>T	ENST00000332303.4	-	1	438	c.315G>A	c.(313-315)ccG>ccA	p.P105P	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	105	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CCCGCTTGATCGGAATCTTCT	0.602000													39	70					0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130710381	130710381	+	Silent	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:130710381G>A	ENST00000373095.1	-	6	960	c.585C>T	c.(583-585)ccC>ccT	p.P195P	FAM102A_ENST00000373084.4_Silent_p.P53P|FAM102A_ENST00000300434.3_Intron	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	195	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GAGCCTTGGGGGGCCGGGACC	0.642000													20	90					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436295	56436295	+	Missense_Mutation	SNP	G	G	C			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr8:56436295G>C	ENST00000327381.6	+	3	1562	c.1462G>C	c.(1462-1464)Gcc>Ccc	p.A488P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGACGCATTTGCCATTCCAGC	0.458000													9	79					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58154208	58154208	+	Missense_Mutation	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr3:58154208C>T	ENST00000295956.4	+	44	7405	c.7240C>T	c.(7240-7242)Cca>Tca	p.P2414S	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000490882.1_Missense_Mutation_p.P2445S|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.P2234S|FLNB_ENST00000493452.1_Missense_Mutation_p.P2221S|FLNB_ENST00000348383.5_Missense_Mutation_p.P2373S|FLNB_ENST00000358537.3_Missense_Mutation_p.P2390S|FLNB_ENST00000429972.2_Missense_Mutation_p.P2403S	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2414	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCGAGCAGGTCCAGGGACATT	0.498000													10	30					0	0	1	0	0
ATPAF2	91647	broad.mit.edu	37	17	17942322	17942322	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:17942322C>G	ENST00000474627.3	-	1	160	c.6G>C	c.(4-6)tgG>tgC	p.W2C	ATPAF2_ENST00000585101.1_Missense_Mutation_p.W2C	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	2					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					GGCAGCTCCTCCACATCGCGC	0.682000													6	16					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329257	80329257	+	Missense_Mutation	SNP	G	G	A	rs140376639	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:80329257G>A	ENST00000358842.3	-	1	115	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	33					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.A33G(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGTAGTTCCGCTGTTTTTGA	0.493000													34	42					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28515043	28515043	+	Silent	SNP	C	C	T			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:28515043C>T	ENST00000356897.1	-	3	298	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	92					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CCTGGAAGGTCAGGGAAACAT	0.647000													4	47					0	0	1	0	0
FKBP4	2288	broad.mit.edu	37	12	2907015	2907015	+	Missense_Mutation	SNP	C	C	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:2907015C>A	ENST00000001008.4	+	3	558	c.371C>A	c.(370-372)cCc>cAc	p.P124H	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	124	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	AAGATTCCCCCCAATGCCACG	0.552000													6	144					0.0215528	0.0218458	1	1	0
PRDX6	9588	broad.mit.edu	37	1	173454617	173454617	+	Missense_Mutation	SNP	G	G	A			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:173454617G>A	ENST00000340385.5	+	3	502	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	PRDX6_ENST00000470017.1_3'UTR	NM_004905.2	NP_004896.1	P30041	PRDX6_HUMAN	peroxiredoxin 6	124	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						AGAGAAGGATGAAAAGGGCAT	0.468000													8	115					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429500	42429500	+	Missense_Mutation	SNP	C	C	T	rs63750412	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:42429500C>T	ENST00000053867.3	+	11	1359	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	GRN_ENST00000589265.1_Missense_Mutation_p.R276W	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	433			R -> Q.		signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCCTGCCCGCCGGGCTTCCTT	0.672000													32	89					0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213181770	213181770	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:213181770C>G	ENST00000366962.3	-	3	578	c.424G>C	c.(424-426)Gat>Cat	p.D142H	ANGEL2_ENST00000544555.1_5'UTR|ANGEL2_ENST00000535388.1_5'UTR|ANGEL2_ENST00000360506.2_5'UTR|ANGEL2_ENST00000540642.1_Missense_Mutation_p.D16H	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	142										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TTTTCTTTATCATGGCTACAT	0.333000													6	32					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054155	106054155	+	RNA	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr14:106054155C>G	ENST00000390539.2	-	0	363																											AGCAGGTCCTCGAGGGCCGGT	0.642000													3	19					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13788918	13788918	+	Missense_Mutation	SNP	C	C	G			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr5:13788918C>G	ENST00000265104.4	-	51	8658	c.8554G>C	c.(8554-8556)Gag>Cag	p.E2852Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2852					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTCCTCCTCTACCAAACTT	0.418000									Kartagener syndrome				5	143					0	0	1	0	0
KIAA0754	643314	broad.mit.edu	37	1	39877655	39877655	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:39877655delA	ENST00000530275.1	+	1	1505	c.1310delA	c.(1309-1311)gaafs	p.E437fs	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	437										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGGAATGTGAAAAAGTGCCT	0.468													13	149	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128169	152128172	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr1:152128169_152128172delTGTC	ENST00000316073.3	-	3	1467_1470	c.1403_1406delGACA	c.(1402-1407)agacaafs	p.RQ468fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	468	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.500													8	1440	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644													7	601	---	---	---	---					
DFNA5	1687	broad.mit.edu	37	7	24742453	24742453	+	Splice_Site	DEL	C	C	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr7:24742453delC	ENST00000545231.1	-	11	1842		c.e11-1		DFNA5_ENST00000409970.1_Splice_Site|DFNA5_ENST00000419307.1_Splice_Site|DFNA5_ENST00000409775.3_Splice_Site|DFNA5_ENST00000342947.3_Splice_Site			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5						sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCTGGCATTTCTGCAGGAGAG	0.502													7	59	---	---	---	---					
CLCN3P1	100419056	broad.mit.edu	37	9	15019545	15019545	+	RNA	DEL	G	G	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr9:15019545delG	ENST00000609203.1	-	0	764																											AGAGGAATCTGTTTGCAGAAA	0.328													6	12	---	---	---	---					
DCTN2	10540	broad.mit.edu	37	12	57926056	57926056	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr12:57926056delC	ENST00000548249.1	-	12	1234	c.967delG	c.(967-969)gccfs	p.A323fs	DCTN2_ENST00000543672.1_Frame_Shift_Del_p.A328fs|DCTN2_ENST00000537439.1_Frame_Shift_Del_p.A300fs|DCTN2_ENST00000434715.3_Frame_Shift_Del_p.A328fs	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	323					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						AGGGTGGAGGCAATGGGGCTC	0.572													2	4	---	---	---	---					
CUL4A	8451	broad.mit.edu	37	13	113899466	113899467	+	Splice_Site	INS	-	-	GT			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr13:113899466_113899467insGT	ENST00000451881.1	+	14	1394_1395	c.1145_1146insGT	c.(1144-1149)gagtgc>gaGTgtgc	p.EC382fs	CUL4A_ENST00000375441.3_Splice_Site_p.EC382fs|CUL4A_ENST00000375440.4_Splice_Site_p.EC482fs|CUL4A_ENST00000326335.4_Splice_Site_p.EC382fs	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	482					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			CTGTGTCCAGAGTGCGGTGCAG	0.540													11	54	---	---	---	---					
SLX4	84464	broad.mit.edu	37	16	3658749	3658749	+	Frame_Shift_Del	DEL	C	C	-	rs139829211	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr16:3658749delC	ENST00000294008.3	-	2	857	c.217delG	c.(217-219)gaafs	p.E73fs		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	73	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GTCTTCCTTTCTCCTGACACT	0.438								Direct reversal of damage					7	74	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)ggcdel	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													7	216	---	---	---	---					
ZNF407	55628	broad.mit.edu	37	18	72345062	72345062	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr18:72345062delA	ENST00000299687.5	+	1	2087	c.2087delA	c.(2086-2088)gaafs	p.E696fs	ZNF407_ENST00000582337.1_Frame_Shift_Del_p.E696fs|ZNF407_ENST00000309902.6_Frame_Shift_Del_p.E696fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.E696fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CATGGTAATGAAGTGAGGCAT	0.403													9	25	---	---	---	---					
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													9	314	---	---	---	---					
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-MV-A51V-01A-11D-A26M-08	TCGA-MV-A51V-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c324bfd-4b0a-47a5-ba13-74ec7a5e9a5f	15e35467-1723-472a-b829-b6e987f873bf	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa		Poly-Gln.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606													7	122	---	---	---	---