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
PCNXL2	80003	broad.mit.edu	37	1	233134030	233134030	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:233134030C>T	ENST00000258229.8	-	32	5992	c.5758G>A	c.(5758-5760)Ggg>Agg	p.G1920R	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G572R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1920						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGACACCCCGTGCTGAGCA	0.612000													8	31					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172558356	172558356	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:172558356T>C	ENST00000367723.3	+	17	2695	c.2571T>C	c.(2569-2571)agT>agC	p.S857S	SUCO_ENST00000263688.3_Silent_p.S705S	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		TAAGTAGTAGTATGCACCAGG	0.393000													4	166					0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436927	72436927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:72436927G>A	ENST00000392627.1	+	2	2273	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M	GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.V23M|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V350M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	338						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GAGCATGTTCGTGGAGAACAA	0.577000													4	57					0	0	1	0	0
CTDSPL	10217	broad.mit.edu	37	3	38022299	38022299	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:38022299G>A	ENST00000443503.2	+	7	979	c.739G>A	c.(739-741)Gag>Aag	p.E247K	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Missense_Mutation_p.E258K	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	258	FCP1 homology.					nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CCCCTTCTTTGAGGGCCTGAG	0.612000													16	73					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378016	19378016	+	Silent	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:19378016C>A	ENST00000550708.1	+	1	495	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCTTGCTATCTGCCGTCCCT	0.453000													10	285					1.02788e-11	1.08835e-11	1	1	0
IMP4	92856	broad.mit.edu	37	2	131100505	131100505	+	Translation_Start_Site	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:131100505G>A	ENST00000259239.3	+	0	708				IMP4_ENST00000409935.1_De_novo_Start_InFrame	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)						rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CGGCACTCAAGATGGTAGGAG	0.637000													39	132					0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58038902	58038902	+	Silent	SNP	A	A	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr18:58038902A>T	ENST00000299766.3	-	1	1099	c.681T>A	c.(679-681)gcT>gcA	p.A227A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	227					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CGGGGAGGACAGCAATCCTCT	0.532000													5	70					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74136183	74136183	+	Silent	SNP	C	C	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:74136183C>G	ENST00000322957.6	-	2	648	c.294G>C	c.(292-294)cgG>cgC	p.R98R		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	98					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCGCGCTCCGCGACGTGC	0.736000													9	18					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49428219	49428219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:49428219G>A	ENST00000301067.7	-	37	10480	c.10481C>T	c.(10480-10482)cCg>cTg	p.P3494L		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AAAAGTGGGCGGGTTGGGACG	0.582000													11	32					0	0	1	0	0
CYBB	1536	broad.mit.edu	37	X	37641386	37641386	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:37641386C>T	ENST00000378588.4	+	2	158	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	31					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CTGGTATTACCGGGTTTATGA	0.403000													43	40					0	0	1	0	0
MPZ	4359	broad.mit.edu	37	1	161276600	161276600	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:161276600T>C	ENST00000533357.1	-	3	412	c.346A>G	c.(346-348)Aac>Gac	p.N116D	MPZ_ENST00000336559.4_Missense_Mutation_p.N116D|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.N126D	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	116	Ig-like V-type.		N -> H (in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient).		synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TAGTCTAGGTTGTGTATGACA	0.517000													26	105					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528635	20528635	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:20528635T>C	ENST00000315683.1	+	1	432	c.432T>C	c.(430-432)ttT>ttC	p.F144F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAAAGGGGTTTGCGATACTTT	0.393000													60	113					0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	407527	407527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:407527G>A	ENST00000380956.4	+	9	1411	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	429					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGGCTACGATTTACCAGA	0.363000			T	IGH@	MM								91	48					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74908337	74908337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:74908337C>T	ENST00000262144.6	-	26	2825	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	899										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGTACACGCCGAACTCTGGA	0.562000													10	31					0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6754886	6754886	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:6754886C>G	ENST00000230859.6	+	13	1586	c.1457C>G	c.(1456-1458)tCc>tGc	p.S486C		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	486					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAACTGTCCATGAAGGGC	0.612000													4	30					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213914478	213914478	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:213914478C>T	ENST00000457361.1	-	5	701	c.533G>A	c.(532-534)aGa>aAa	p.R178K	IKZF2_ENST00000374319.4_Missense_Mutation_p.R152K|IKZF2_ENST00000451136.2_Missense_Mutation_p.R152K|IKZF2_ENST00000413091.3_Missense_Mutation_p.R178K|IKZF2_ENST00000342002.2_Missense_Mutation_p.R184K|IKZF2_ENST00000434687.1_Missense_Mutation_p.R178K|IKZF2_ENST00000421754.2_Missense_Mutation_p.R152K|IKZF2_ENST00000374327.4_Intron	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GTCCCTTCTTCTACAGGCGTA	0.453000													27	32					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155123109	155123109	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:155123109A>G	ENST00000367178.3	+	7	1187	c.611A>G	c.(610-612)cAa>cGa	p.Q204R	SCAF8_ENST00000417268.1_Missense_Mutation_p.Q204R|SCAF8_ENST00000367186.4_Missense_Mutation_p.Q270R	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	204	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCAGCTTCAACAATTAATA	0.383000													4	164					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730506	179730506	+	Silent	SNP	G	G	A	rs142544322		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:179730506G>A	ENST00000420890.2	-	17	2829	c.2712C>T	c.(2710-2712)gaC>gaT	p.D904D	CCDC141_ENST00000295723.5_Silent_p.D329D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	329							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTTATCTCGTCTCTCATGG	0.522000													66	182					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183882067	183882067	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:183882067G>A	ENST00000313143.3	+	3	492	c.244G>A	c.(244-246)Gag>Aag	p.E82K	DVL3_ENST00000431765.1_Missense_Mutation_p.E82K|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	82	DIX.				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)			GGTGTCAGCTGAGGGCTCACA	0.577000													18	165					0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	666136	666136	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:666136G>A	ENST00000360578.5	-	3	535	c.414C>T	c.(412-414)cgC>cgT	p.R138R	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	138					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGTGCACCTCGCGAACGGCCT	0.657000													33	50					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66978739	66978739	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:66978739G>A	ENST00000340001.4	-	37	4895	c.4684C>T	c.(4684-4686)Cga>Tga	p.R1562*	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1524*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1562					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATAAAGGTCGCACATCCTCA	0.453000													5	216					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70136632	70136632	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:70136632T>C	ENST00000388768.2	-	13	1734	c.1408A>G	c.(1408-1410)Atc>Gtc	p.I470V	RUFY2_ENST00000265865.3_Missense_Mutation_p.I25V|RUFY2_ENST00000602465.1_Missense_Mutation_p.I435V	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	484						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TTTTGGGAGATTTGTTTCTGC	0.383000													48	128					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102912208	102912208	+	RNA	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:102912208C>T	ENST00000312132.4	-	0	2371																											CGTTTTACTGCATTAATTACA	0.333000													4	96					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128326338	128326338	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:128326338C>T	ENST00000368227.3	-	15	2751	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	PTPRK_ENST00000368207.3_Missense_Mutation_p.M805I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M795I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M795I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M795I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M795I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.M794I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	794					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCATGTGAGTCATCTCCTGCC	0.458000													18	55					0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157031490	157031490	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:157031490C>A	ENST00000362010.2	-	11	2237	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.A644S|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	644						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCCACAGAGCTCTGAGGAAT	0.478000													6	110					0.00116845	0.00117779	1	1	0
LRIG3	121227	broad.mit.edu	37	12	59271321	59271321	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:59271321C>T	ENST00000320743.3	-	15	2683	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_ENST00000379141.4_Silent_p.S739S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	799						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562000			T	ROS1	NSCLC								41	52					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53740939	53740939	+	Nonsense_Mutation	SNP	G	G	T	rs143592638		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:53740939G>T	ENST00000333952.4	-	5	1206	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*	ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Y347*			Q86XU0	ZN677_HUMAN	zinc finger protein 677	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTAAGGTTTCT	0.378000													23	83					7.41877e-09	7.72533e-09	1	1	0
CYP4F11	57834	broad.mit.edu	37	19	16034870	16034870	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:16034870C>T	ENST00000326742.7	-	6	671	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	CYP4F11_ENST00000402119.3_Missense_Mutation_p.A224T|CYP4F11_ENST00000248041.7_Missense_Mutation_p.A224T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	224					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCCAAGATGGCGGCAATATAT	0.498000													4	150					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362190	36362190	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:36362190T>C	ENST00000221891.4	+	4	668	c.476T>C	c.(475-477)tTg>tCg	p.L159S	APLP1_ENST00000586861.1_Missense_Mutation_p.L153S|APLP1_ENST00000537454.2_Missense_Mutation_p.L120S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	159	Copper-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGTTCTTGCACCAGGAG	0.622000													9	26					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:124418865C>T	ENST00000360013.3	+	56	8108	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					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						GGAGTTTGTGCGACTTCCAGA	0.597000													4	179					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													4	125					0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	131010933	131010933	+	Silent	SNP	G	G	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:131010933G>C	ENST00000341179.7	+	19	2069	c.1977G>C	c.(1975-1977)gtG>gtC	p.V659V	DNM1_ENST00000486160.1_Silent_p.V659V|DNM1_ENST00000393594.3_Silent_p.V659V|DNM1_ENST00000372923.3_Silent_p.V659V|DNM1_ENST00000475805.1_Silent_p.V659V	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	659	GED.				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						AACGGCAAGTGGAGACCATCC	0.537000													24	258					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50612018	50612018	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:50612018C>T	ENST00000216373.5	-	16	2811	c.2537G>A	c.(2536-2538)cGg>cAg	p.R846Q	SOS2_ENST00000543680.1_Missense_Mutation_p.R813Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	846	Ras-GEF.				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	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TACTGCCACCCGTTCTTCAAA	0.328000													4	104					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105757679	105757679	+	Splice_Site	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:105757679T>C	ENST00000374798.3	+	1	87	c.17_splice	c.e1+1	p.F6_splice	CYLC2_ENST00000487798.1_Splice_Site_p.F6_splice	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	6					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCCCAAGATTGTAAGTCAAA	0.308000													115	145					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88717142	88717142	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:88717142C>T	ENST00000372027.4	-	1	230	c.157G>A	c.(157-159)Gta>Ata	p.V53I		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	53						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TACCGTCCTACGGGGTCCTTG	0.617000													11	80					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66878987	66878987	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr13:66878987T>C	ENST00000544246.1	-	5	4205	c.3514A>G	c.(3514-3516)Aag>Gag	p.K1172E	PCDH9_ENST00000328454.5_Missense_Mutation_p.K1138E|PCDH9_ENST00000377865.2_Missense_Mutation_p.K1172E|PCDH9_ENST00000456367.1_Missense_Mutation_p.K1138E|PCDH9-AS1_ENST00000430861.1_RNA	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1172					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCACAAGCTTGTCCTTCTTC	0.498000													24	97					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11175081	11175081	+	Silent	SNP	T	T	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408000													4	116					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933309	44933309	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:44933309G>A	ENST00000291187.4	-	6	1951	c.1629C>T	c.(1627-1629)tgC>tgT	p.C543C	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.C549C	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTCTTCCCGCACTCGCATT	0.522000													74	96					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156626137	156626137	+	Missense_Mutation	SNP	G	G	T	rs138466651		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:156626137G>T	ENST00000329117.4	+	9	2342	c.2006G>T	c.(2005-2007)cGc>cTc	p.R669L	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	669	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGGGGTCCGCTGCCTATGT	0.637000													12	169					3.27435e-08	3.38171e-08	1	1	0
RNF217	154214	broad.mit.edu	37	6	125379204	125379204	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:125379204C>T	ENST00000521654.2	+	3	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	RNF217_ENST00000275184.6_Silent_p.S55S|RNF217_ENST00000560949.1_Silent_p.S176S|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Silent_p.S119S			Q8TC41	RN217_HUMAN	ring finger protein 217	119					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ACTGGGCCAGCGAAATTGAGC	0.448000													17	48					0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986468	15986468	+	Silent	SNP	T	T	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:15986468T>G	ENST00000345034.1	+	1	105	c.105T>G	c.(103-105)gcT>gcG	p.A35A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	35					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|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;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCTCTGCTTCAGTCTGCC	0.473000													54	233					0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123367875	123367875	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:123367875T>C	ENST00000373930.3	-	6	1513	c.1402A>G	c.(1402-1404)Aat>Gat	p.N468D	MEGF9_ENST00000426959.1_Missense_Mutation_p.N505D	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	468						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AAAGAGGCATTGGAAACCAAA	0.363000													10	6					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106844000	106844000	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:106844000G>A	ENST00000276185.4	+	16	2830	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	944						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGCAGGCCTAGAAATGTCACT	0.567000													7	18					0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758242	99758242	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:99758242T>C	ENST00000360039.4	-	4	1162	c.770A>G	c.(769-771)aAt>aGt	p.N257S	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	257					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCATTGGGATTGAG	0.557000													60	141					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207679361	207679361	+	Silent	SNP	C	C	T	rs142605009	by1000genomes	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:207679361C>T	ENST00000367049.4	+	2	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.S78S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	78	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTTATTCCGGAAGACCGT	0.483000													27	179					0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22767071	22767071	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:22767071G>A	ENST00000404625.1	+	3	487	c.28G>A	c.(28-30)Ggt>Agt	p.G10S	AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.G10S|IL6_ENST00000420258.2_Missense_Mutation_p.G64S|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.G10S|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	10					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	AGGCGCCTTCGGTCCAGTTGC	0.687000											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	29					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132201045	132201045	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:132201045A>T	ENST00000360971.2	+	20	1991	c.1971A>T	c.(1969-1971)ttA>ttT	p.L657F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	657	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGAAACTTTACCCTATGGAA	0.378000													57	63					0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69732777	69732777	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:69732777G>A	ENST00000260363.4	+	17	2135	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q	KIF23_ENST00000558585.1_Missense_Mutation_p.R490Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R673Q|KIF23_ENST00000352331.4_Missense_Mutation_p.R673Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R490Q|KIF23_ENST00000395392.2_Missense_Mutation_p.R673Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	673					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCTCGGGAGCGAGATCGAGAA	0.388000													10	62					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8161664	8161664	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:8161664G>T	ENST00000343202.4	-	2	266	c.201C>A	c.(199-201)ttC>ttA	p.F67L	RIC3_ENST00000539720.1_Missense_Mutation_p.F18L|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Missense_Mutation_p.F67L|RIC3_ENST00000425599.2_Missense_Mutation_p.F67L|RIC3_ENST00000309737.6_Missense_Mutation_p.F67L	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	67						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)		GAGACCTCTGGAAACGAGCCC	0.507000													28	70					4.22769e-11	4.43908e-11	1	1	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													5	216					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109370370	109370370	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:109370370G>A	ENST00000283195.6	+	15	2271	c.2145G>A	c.(2143-2145)agG>agA	p.R715R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	715					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						GAAAGACCAGGGACTACCTAA	0.353000													108	295					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75898158	75898158	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:75898158A>G	ENST00000322507.8	-	8	1226	c.917T>C	c.(916-918)gTg>gCg	p.V306A	COL12A1_ENST00000483888.2_Missense_Mutation_p.V306A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V306A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	306	VWFA 1.				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						CTGAATATCCACAATTGCATC	0.418000													8	161					0	0	1	0	0
AP3S2	10239	broad.mit.edu	37	15	90378853	90378853	+	Missense_Mutation	SNP	G	G	A	rs140200217		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:90378853G>A	ENST00000336418.4	-	6	868	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000558011.1_Missense_Mutation_p.A171V|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A360V|AP3S2_ENST00000560940.1_Intron	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)			CACAGCCCGCGCAGGGGCTGC	0.433000													43	117					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247016551	247016551	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:247016551C>T	ENST00000366508.1	-	32	4646	c.4510G>A	c.(4510-4512)Gaa>Aaa	p.E1504K	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1478K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1469K			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1469	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATAGGACCTTCAGAGATAGTG	0.388000													28	73					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6435720	6435720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:6435720C>T	ENST00000449001.2	+	13	2049	c.1555C>T	c.(1555-1557)Cag>Tag	p.Q519*	PLEKHG6_ENST00000304581.8_Nonsense_Mutation_p.Q81*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.Q551*|PLEKHG6_ENST00000396988.3_Nonsense_Mutation_p.Q551*	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	551					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						GGAGGGCTCTCAGAGCAGCGC	0.597000													17	23					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680435	44680435	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:44680435T>C	ENST00000590089.1	+	7	1387	c.1020T>C	c.(1018-1020)tgT>tgC	p.C340C	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.C340C|ZNF226_ENST00000337433.5_Silent_p.C340C			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				GTAAGCAATGTGGGAAAGGTT	0.453000													18	99					0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6602125	6602125	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:6602125C>T	ENST00000229238.3	-	2	554	c.93G>A	c.(91-93)ttG>ttA	p.L31L	MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	31					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TTATACCGATCAATCTAGGCA	0.522000													18	107					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66943631	66943631	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:66943631T>C	ENST00000374690.3	+	8	3235	c.2711T>C	c.(2710-2712)gTg>gCg	p.V904A	AR_ENST00000396043.2_Missense_Mutation_p.V372A|AR_ENST00000396044.3_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	903	Interaction with MYST2.|Ligand-binding.		P -> H (in AIS).|P -> S (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCTGTGCAAGTGCCCAAGATC	0.502000									Androgen Insensitivity Syndrome				8	132					0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242511527	242511527	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:242511527G>A	ENST00000427495.1	-	2	146	c.21C>T	c.(19-21)atC>atT	p.I7I	PLD5_ENST00000536534.1_Silent_p.I69I|PLD5_ENST00000442594.2_5'UTR	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	69						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAAAGATCACGATGCACTTCT	0.453000													43	77					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245409	59245409	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:59245409C>T	ENST00000530162.1	+	1	564	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCTTTCTGCGGACCCAATG	0.498000													47	112					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	100992479	100992479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr13:100992479C>T	ENST00000376285.1	+	18	1647	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	PCCA_ENST00000376286.4_Nonsense_Mutation_p.Q511*|PCCA_ENST00000376279.3_Nonsense_Mutation_p.Q537*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	537					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGTGGCATTCCAGTTAAGAGC	0.353000													15	63					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19984742	19984742	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:19984742C>T	ENST00000379687.3	-	2	100	c.67G>A	c.(67-69)Gct>Act	p.A23T	CXorf23_ENST00000356980.3_Missense_Mutation_p.A23T|CXorf23_ENST00000379682.4_Missense_Mutation_p.A23T	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	23						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TAGTGTTCAGCATTTCTAGGT	0.403000													45	34					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2622102	2622102	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:2622102G>A	ENST00000399655.1	+	9	1607	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	448					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGAAGACATCGATCCTGAGAA	0.567000													10	13					0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171162507	171162507	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:171162507C>A	ENST00000441535.1	+	3	283	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.Q56K	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	56					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGTATCTATCAATCTGTCGT	0.353000													49	176					1.67886e-27	1.808e-27	1	1	0
TBX3	6926	broad.mit.edu	37	12	115120692	115120692	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:115120692A>G	ENST00000349155.2	-	1	1277	c.314T>C	c.(313-315)gTg>gCg	p.V105A	TBX3_ENST00000257566.3_Missense_Mutation_p.V105A	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	105					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTCCAGGTGCACCTTGGGGTC	0.612000													40	49					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490123	65490123	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:65490123T>C	ENST00000261883.4	-	9	2667	c.2501A>G	c.(2500-2502)cAa>cGa	p.Q834R		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	834					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCCACTGCTTGCAGTTCCTC	0.562000													34	89					0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019317	27019317	+	Splice_Site	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:27019317G>A	ENST00000354760.3	+	3	193		c.e3+1		CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4						camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TGAGTGGAGCGTGAGTCTAGG	0.597000													14	52					0	0	1	0	0
IFT80	57560	broad.mit.edu	37	3	160099295	160099295	+	Silent	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:160099295A>G	ENST00000326448.7	-	3	687	c.255T>C	c.(253-255)tcT>tcC	p.S85S	IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	85						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACTTACCATCAGAACTTGTGA	0.323000													23	148					0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575173	161575173	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:161575173C>T	ENST00000366906.5	-	3	452	c.332G>A	c.(331-333)aGg>aAg	p.R111K	AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000320285.4_Intron|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron			Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	173					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	p.?(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTCTGGTGCCTACATACAAA	0.582000													24	24					0	0	1	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72759610	72759610	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:72759610C>T	ENST00000262613.5	+	3	903	c.708C>T	c.(706-708)gaC>gaT	p.D236D	SLC9A3R1_ENST00000413388.2_Silent_p.D80D	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	236					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						GGGAAACTGACGAGTTCTTCA	0.622000													5	13					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236735738	236735738	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:236735738A>G	ENST00000366582.3	-	26	3794	c.3680T>C	c.(3679-3681)gTg>gCg	p.V1227A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V1146A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1227					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)			AAGAGTTGGCACCAATATCTG	0.398000													9	144					0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52222476	52222476	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:52222476A>G	ENST00000540069.2	-	2	742	c.682T>C	c.(682-684)Tcg>Ccg	p.S228P	HAS1_ENST00000222115.1_Missense_Mutation_p.S229P|HAS1_ENST00000601714.1_Missense_Mutation_p.S236P|HAS1_ENST00000594621.1_Missense_Mutation_p.S83P			Q92839	HAS1_HUMAN	hyaluronan synthase 1	229					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGTCCACCGAATCTCCGAGC	0.607000													9	65					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1514					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATGTTCTGGAAGAAAGCAT	0.398000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				35	71					0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3759729	3759729	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:3759729C>T	ENST00000316757.3	-	2	734	c.534G>A	c.(532-534)acG>acA	p.T178T		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	178					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)		CTAGAGGCACCGTCTCCAGCC	0.647000													14	49					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:147685192C>T	ENST00000367481.3	+	23	2971	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363000													5	245					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	42					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117439	4117439	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:4117439G>A	ENST00000262948.5	-	2	534	c.281C>T	c.(280-282)tCg>tTg	p.S94L	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	94	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						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)		GATGAGGCCCGAGGGTCTGTG	0.632000													12	28					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57573390	57573390	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:57573390T>C	ENST00000524630.1	+	10	2272	c.1759T>C	c.(1759-1761)Tca>Cca	p.S587P	CTNND1_ENST00000532844.1_Missense_Mutation_p.S533P|CTNND1_ENST00000530094.1_Missense_Mutation_p.S486P|CTNND1_ENST00000529919.1_Missense_Mutation_p.S587P|CTNND1_ENST00000428599.2_Missense_Mutation_p.S587P|CTNND1_ENST00000534579.1_Missense_Mutation_p.S533P|CTNND1_ENST00000399050.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526938.1_Missense_Mutation_p.S587P|CTNND1_ENST00000532787.1_Missense_Mutation_p.S486P|CTNND1_ENST00000528621.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532649.1_Missense_Mutation_p.S533P|CTNND1_ENST00000426142.2_Missense_Mutation_p.S486P|CTNND1_ENST00000529986.1_Missense_Mutation_p.S486P|CTNND1_ENST00000527467.1_Missense_Mutation_p.S264P|CTNND1_ENST00000525902.1_Missense_Mutation_p.S264P|CTNND1_ENST00000532463.1_Missense_Mutation_p.S486P|CTNND1_ENST00000532245.1_Missense_Mutation_p.S486P|CTNND1_ENST00000531014.1_Missense_Mutation_p.S264P|CTNND1_ENST00000361796.4_Missense_Mutation_p.S587P|CTNND1_ENST00000399039.4_Missense_Mutation_p.S587P|CTNND1_ENST00000360682.6_Missense_Mutation_p.S587P|CTNND1_ENST00000358694.6_Missense_Mutation_p.S587P|CTNND1_ENST00000529526.1_Missense_Mutation_p.S533P|CTNND1_ENST00000528232.1_Missense_Mutation_p.S486P|CTNND1_ENST00000361391.6_Missense_Mutation_p.S587P|CTNND1_ENST00000529873.1_Missense_Mutation_p.S533P|CTNND1_ENST00000526357.1_Missense_Mutation_p.S533P|CTNND1_ENST00000530748.1_Missense_Mutation_p.S533P|CTNND1_ENST00000415361.2_Missense_Mutation_p.S486P|CTNND1_ENST00000361332.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526772.1_Missense_Mutation_p.S264P|CTNND1_ENST00000533667.1_Missense_Mutation_p.S264P			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	587					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCGGAACTTATCATATCAAGT	0.463000													9	27					0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162729614	162729614	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:162729614G>A	ENST00000367922.2	+	9	1138	c.700G>A	c.(700-702)Gat>Aat	p.D234N	DDR2_ENST00000367921.3_Missense_Mutation_p.D234N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	234					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CCAATTGACCGATGGTGTGTC	0.542000													23	78					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53358431	53358431	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:53358431C>T	ENST00000566029.1	+	39	8479	c.8270C>T	c.(8269-8271)tCt>tTt	p.S2757F	CHD9_ENST00000398510.3_Missense_Mutation_p.S2773F|CHD9_ENST00000447540.1_Missense_Mutation_p.S2758F|CHD9_ENST00000564845.1_Missense_Mutation_p.S2757F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2773					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTGTCAAGTTCTCCTTCCACA	0.423000													9	35					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23812077	23812077	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:23812077A>G	ENST00000314520.3	+	1	1624	c.1148A>G	c.(1147-1149)gAg>gGg	p.E383G	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.E143G	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	383						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAGGAGGAAGAGAAGCAGAAA	0.512000													25	67					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354576	17354576	+	RNA	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:17354576C>T	ENST00000511821.1	+	0	435				FTH1P10_ENST00000401830.3_RNA																							GTGGTGACTGCGCAGTGCTGG	0.711000													5	9					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760877	15760877	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:15760877C>T	ENST00000378076.3	-	2	584	c.231G>A	c.(229-231)gcG>gcA	p.A77A		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	77					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						TGGCTTTGGGCGCCCCCACCA	0.592000													22	84					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193120555	193120555	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:193120555T>C	ENST00000342695.4	-	30	3799	c.3477A>G	c.(3475-3477)gcA>gcG	p.A1159A	ATP13A4_ENST00000392443.3_Silent_p.A1140A|ATP13A4_ENST00000400270.2_Silent_p.A175A|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1159					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAGGGTCATTTGCCAAGTCCC	0.483000													33	138					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	196					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162841615	162841615	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:162841615G>A	ENST00000306100.5	-	4	786	c.350C>T	c.(349-351)gCt>gTt	p.A117V	FSTL5_ENST00000536695.1_Missense_Mutation_p.A116V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A116V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A116V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	117	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGGCAAGCAGCTCTGTGCAC	0.418000													16	51					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141250225	141250225	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:141250225C>G	ENST00000389484.3	-	57	10043	c.9072G>C	c.(9070-9072)gaG>gaC	p.E3024D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3024					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCCTTATCTCATGATGAT	0.348000										TSP Lung(27;0.18)			51	113					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34011718	34011718	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:34011718C>A	ENST00000373381.4	-	57	9195	c.9019G>T	c.(9019-9021)Gct>Tct	p.A3007S		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2980	Sushi 22.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACGTGGCCAGCTTCACAGCTG	0.602000													8	59					1.06961e-07	1.08686e-07	1	1	0
CNGA4	1262	broad.mit.edu	37	11	6261426	6261426	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:6261426G>A	ENST00000379936.2	+	4	517	c.402G>A	c.(400-402)ccG>ccA	p.P134P	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGGGCCCGCACACACCCA	0.617000													5	192					0	0	1	0	0
NAF1	92345	broad.mit.edu	37	4	164087806	164087806	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:164087806T>C	ENST00000274054.2	-	1	267	c.74A>G	c.(73-75)gAa>gGa	p.E25G	NAF1_ENST00000422287.2_Missense_Mutation_p.E25G	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	25					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)				CGCCGGACCTTCCCCAACTCC	0.672000													8	27					0	0	1	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941403	37941403	+	Silent	SNP	C	C	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:37941403C>G	ENST00000373087.6	+	2	422	c.306C>G	c.(304-306)ccC>ccG	p.P102P		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	102					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCGGACCCCTGCCCTCAGC	0.662000													7	28					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579749	58579749	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:58579749C>A	ENST00000506786.1	+	5	2325	c.1771C>A	c.(1771-1773)Cca>Aca	p.P591T	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.P633T|ZNF135_ENST00000511556.1_Missense_Mutation_p.P645T|ZNF135_ENST00000313434.5_Missense_Mutation_p.P633T|ZNF135_ENST00000401053.4_Missense_Mutation_p.P657T			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	645					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGGAGAGAAGCCATATGCATG	0.547000													10	103					4.68919e-08	4.80356e-08	1	1	0
MKI67	4288	broad.mit.edu	37	10	129905282	129905282	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:129905282C>T	ENST00000368654.3	-	13	5197	c.4822G>A	c.(4822-4824)Gat>Aat	p.D1608N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1248N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1608	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCAGTTTTATCGTTAGTCATT	0.502000													31	188					0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48914844	48914844	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:48914844C>T	ENST00000294954.7	-	11	2113	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.E636K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E671K|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	698					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTTAACACTCTGTGTAGCGA	0.368000													23	88					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164305	141164305	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:141164305C>T	ENST00000514251.1	+	4	3354	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L	ZBTB38_ENST00000441582.2_Silent_p.L1025L|ZBTB38_ENST00000321464.5_Silent_p.L1026L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1025					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						CTTCCACACTCAAAATGCACA	0.552000													7	85					0	0	1	0	0
ZC4H2	55906	broad.mit.edu	37	X	64141701	64141701	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:64141701T>C	ENST00000545618.1	-	3	769	c.206A>G	c.(205-207)aAt>aGt	p.N69S	ZC4H2_ENST00000374839.3_Missense_Mutation_p.N74S|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.N74S|ZC4H2_ENST00000337990.2_Missense_Mutation_p.N51S			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	74							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGTACCACATTGATGTCAGC	0.517000													5	27					0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113359744	113359744	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:113359744G>A	ENST00000458497.1	+	13	3572	c.3293G>A	c.(3292-3294)aGa>aAa	p.R1098K	ALPK1_ENST00000177648.9_Missense_Mutation_p.R1098K|ALPK1_ENST00000504176.2_Missense_Mutation_p.R1020K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1098	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTAACAAGAGACTCTATGAA	0.438000													25	99					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93175725	93175725	+	Splice_Site	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:93175725C>T	ENST00000322349.8	-	23	3601		c.e23+1			NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1						early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACATGCAATACCTTTTCTTTC	0.388000													60	100					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	rs139209490	by1000genomes	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632000													4	170					0	0	1	0	0
FAM86A	196483	broad.mit.edu	37	16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562000													5	175					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68040264	68040264	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:68040264T>C	ENST00000433211.1	-	13	2022	c.1848A>G	c.(1846-1848)acA>acG	p.T616T	CTNNA3_ENST00000373744.4_Silent_p.T616T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	616					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.T616T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCATGAATTGTATCATAGA	0.368000													35	81					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338834	122338834	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:122338834G>A	ENST00000340112.2	-	1	376	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	47						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCCCAACATGAAATGATATG	0.448000													14	141					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182374442	182374442	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:182374442C>A	ENST00000397033.2	+	16	2183	c.1753C>A	c.(1753-1755)Cct>Act	p.P585T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	585					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCACCTTGGTCCTCATGTCAT	0.398000													33	106					2.47316e-13	2.64083e-13	1	1	0
LOC100294341	100294341	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													4	65					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:100369721delT	ENST00000542585.1	+	0	5573				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_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)			ctctaaattcttttttttttt	0.532													2	4	---	---	---	---					
LY6H	4062	broad.mit.edu	37	8	144240241	144240255	+	In_Frame_Del	DEL	GGACACTGGCACACA	GGACACTGGCACACA	-	rs151331428		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr8:144240241_144240255delGGACACTGGCACACA	ENST00000414417.2	-	4	448_462	c.215_229delTGTGTGCCAGTGTCC	c.(214-231)gga>g	p.VCASVR72del	LY6H_ENST00000430474.2_In_Frame_Del_p.VCASVR51del|LY6H_ENST00000342752.4_In_Frame_Del_p.VCASVR72del	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	51	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCGGTGATTCGGACACTGGCACACACCGTGTCGGA	0.614													11	65	---	---	---	---					
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						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)		TTCATGTGCCTAAAAAAAAAAA	0.426													2	4	---	---	---	---					
TUBBP5	643224	broad.mit.edu	37	9	141069809	141069809	+	RNA	DEL	T	T	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:141069809delT	ENST00000503395.1	+	0	1023																											CTCCCGTCTCTTGCAGTTCTG	0.662													2	4	---	---	---	---					
TNKS1BP1	85456	broad.mit.edu	37	11	57070255	57070255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:57070255delC	ENST00000532437.1	-	6	4672	c.4361delG	c.(4360-4362)gcfs	p.G1454fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1454fs			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1454	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCAGCAGGCCCTGGGAGCC	0.692													2	4	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900332	+	RNA	DEL	AA	AA	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:28900331_28900332delAA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaaa	0.411													2	4	---	---	---	---					
CEACAM1	634	broad.mit.edu	37	19	43023198	43023199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:43023198_43023199insT	ENST00000161559.6	-	5	1281_1282	c.1147_1148insA	c.(1147-1149)aaafs	p.K383fs	CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000403444.3_Frame_Shift_Ins_p.K383fs|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000599389.1_Intron	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	383	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GACAGGGTTTATGCTGAGGGTG	0.510													42	133	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36688149	36688151	+	In_Frame_Del	DEL	GTC	GTC	-	rs34292387	byFrequency	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:36688149_36688151delGTC	ENST00000216181.5	-	31	4455_4457	c.4225_4227delGAC	c.(4225-4227)del	p.D1409del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1409					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						TCTCCAGCTTGTCGTAGGCGGCC	0.640			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				10	107	---	---	---	---					
