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
SART3	9733	broad.mit.edu	37	12	108923975	108923975	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:108923975G>A	ENST00000228284.3	-	15	2093	c.1859C>T	c.(1858-1860)cCa>cTa	p.P620L	SART3_ENST00000431469.2_Missense_Mutation_p.P584L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	620	Required for nuclear localization.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						GCGCTTCTCTGGGCCTCTGAT	0.453000									Porokeratosis				12	121					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7811260	7811260	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:7811260C>G	ENST00000380358.4	+	34	5253	c.5252C>G	c.(5251-5253)cCa>cGa	p.P1751R	CHD3_ENST00000330494.7_Missense_Mutation_p.P1692R|CHD3_ENST00000358181.4_Missense_Mutation_p.P1658R	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1692	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGAGATGAGCCACGGTCCAAT	0.567000													6	66					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13824412	13824412	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:13824412G>A	ENST00000265104.4	-	39	6579	c.6475C>T	c.(6475-6477)Ctg>Ttg	p.L2159L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2159	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAACTGACAGAATGTTACGC	0.418000									Kartagener syndrome				7	60					0	0	1	0	0
CAPN15	6650	broad.mit.edu	37	16	601394	601394	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:601394C>T	ENST00000219611.2	+	8	2522	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15																		CATGCCTACTCCATCCTGGAT	0.662000													14	65					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506291	178506291	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:178506291C>T	ENST00000315475.6	+	5	1164	c.858C>T	c.(856-858)acC>acT	p.T286T		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ACAGTTCAACCCTTATCAAAC	0.423000													7	95					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29857406	29857406	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:29857406C>T	ENST00000325874.8	+	14	1945	c.1716C>T	c.(1714-1716)ctC>ctT	p.L572L	RAB11FIP4_ENST00000394744.2_Silent_p.L470L	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	572	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GCCTCAGCCTCTACGAAGCAA	0.537000													10	102					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	109924753	109924753	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:109924753C>T	ENST00000218054.4	-	10	1303	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CHRDL1_ENST00000372042.1_Silent_p.E371E|CHRDL1_ENST00000434224.1_Silent_p.E290E|CHRDL1_ENST00000482160.1_Silent_p.E291E|CHRDL1_ENST00000372045.1_Silent_p.E363E|CHRDL1_ENST00000444321.2_Silent_p.E370E|CHRDL1_ENST00000394797.4_Silent_p.E369E	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	363					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GAGGTGGTCTCTCAGTCTCCA	0.458000													16	94					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85954861	85954861	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:85954861C>T	ENST00000268638.5	+	9	1676	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	IRF8_ENST00000562492.1_Silent_p.F214F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	418					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GATCATTTTTCAGAGAAAACC	0.582000													6	104					0	0	1	0	0
TPRG1	285386	broad.mit.edu	37	3	189038588	189038588	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:189038588C>T	ENST00000345063.3	+	6	974	c.807C>T	c.(805-807)gcC>gcT	p.A269A	TPRG1_ENST00000433971.1_Silent_p.A269A	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	269										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		ATTCCCTTGCCCGTGGGAGTA	0.413000													5	22					0	0	1	0	0
RGS4	5999	broad.mit.edu	37	1	163044187	163044187	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:163044187C>T	ENST00000421743.2	+	6	906	c.746C>T	c.(745-747)gCc>gTc	p.A249V	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367909.6_Missense_Mutation_p.A152V|RGS4_ENST00000527809.1_Missense_Mutation_p.A134V|RGS4_ENST00000367906.3_Missense_Mutation_p.A134V|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000491263.1_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	152					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTTGATGAGGCCCAGAAGAAG	0.517000													17	376					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167671	28167671	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:28167671A>G	ENST00000304658.5	-	7	1321	c.821T>C	c.(820-822)aTc>aCc	p.I274T	XPO6_ENST00000565698.1_Missense_Mutation_p.I260T	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	274					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAAGTGGAAGATGGTGGTAAG	0.567000													4	83					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249686	52249686	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:52249686T>C	ENST00000595042.1	-	3	703	c.562A>G	c.(562-564)Aaa>Gaa	p.K188E	FPR1_ENST00000304748.4_Missense_Mutation_p.K188E	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	188					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	ATCCTCTCTTTAGGGTCGTTG	0.502000													8	91					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403904	179403904	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:179403904G>A	ENST00000589042.1	-	353	98982	c.98758C>T	c.(98758-98760)Cgg>Tgg	p.R32920W	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R31279W|TTN_ENST00000460472.2_Missense_Mutation_p.R23855W|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R23980W|TTN_ENST00000342992.6_Missense_Mutation_p.R30352W|TTN_ENST00000342175.6_Missense_Mutation_p.R24047W|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31279							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTGGGCCGGGACCAGGAC	0.473000													9	54					0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144804368	144804368	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:144804368G>C	ENST00000338033.4	+	14	1701	c.1582G>C	c.(1582-1584)Gtc>Ctc	p.V528L		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	528					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTACGGGACTGTCTGCCACTC	0.692000													23	73					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19171090	19171090	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:19171090G>A	ENST00000263200.10	-	30	4712	c.4640C>T	c.(4639-4641)gCt>gTt	p.A1547V	CLTCL1_ENST00000427926.1_Missense_Mutation_p.A1547V|CLTCL1_ENST00000353891.5_Missense_Mutation_p.A1490V|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1547	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGCCAGCTCAGCATCCCGCGA	0.597000			T	?	ALCL								11	39					0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288828	107288828	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:107288828G>A	ENST00000277216.3	-	1	662	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TGGTGTAGAGGATGAACATAT	0.413000													14	122					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16024455	16024455	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:16024455G>A	ENST00000268712.3	-	16	2020	c.1763C>T	c.(1762-1764)tCc>tTc	p.S588F	NCOR1_ENST00000395848.1_Missense_Mutation_p.S479F|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395851.1_Missense_Mutation_p.S588F	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	588					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTTTGTCATGGACCTGGTGAT	0.612000													8	111					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46346011	46346011	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:46346011C>T	ENST00000339464.4	-	2	461	c.87G>A	c.(85-87)gtG>gtA	p.V29V	WNT7B_ENST00000409496.3_Silent_p.V33V|WNT7B_ENST00000410058.1_Silent_p.V29V|WNT7B_ENST00000410089.1_Silent_p.V13V	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	29					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGGGCCACCACGGATGACA	0.647000													4	24					0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807520	41807520	+	Missense_Mutation	SNP	C	C	T	rs149392942		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:41807520C>T	ENST00000392006.3	+	11	1771	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P433L|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P433L|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P444L|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P419L|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.P533L|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P433L	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	533	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.P533L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GTAATTTGTCCCACTGACGAG	0.448000													16	114					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072586	134072586	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:134072586C>T	ENST00000264360.4	+	1	2117	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTCCTACACCCTGACTGTAGT	0.592000													21	243					0	0	1	0	0
PPM1H	57460	broad.mit.edu	37	12	63195720	63195720	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:63195720G>T	ENST00000228705.6	-	3	932	c.632C>A	c.(631-633)tCc>tAc	p.S211Y		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	211	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		TCCGCGCAGGGAGGCTGCCCG	0.687000													6	87					0.000274275	0.000276944	1	1	0
ARID5B	84159	broad.mit.edu	37	10	63852711	63852711	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:63852711C>T	ENST00000279873.7	+	10	3899	c.3489C>T	c.(3487-3489)taC>taT	p.Y1163Y	ARID5B_ENST00000309334.5_Silent_p.Y920Y	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1163					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACAGCATTTACCCTTTAGCTG	0.488000													15	125					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78888994	78888994	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:78888994C>T	ENST00000326828.5	-	6	1854	c.1470G>A	c.(1468-1470)ggG>ggA	p.G490G	CHRNA3_ENST00000348639.3_Intron	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	490					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATCCTGCTGTCCCTAGAATGC	0.468000													6	35					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530093	140530093	+	Silent	SNP	A	A	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140530093A>T	ENST00000231136.1	+	1	255	c.255A>T	c.(253-255)ctA>ctT	p.L85L	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		85	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTACTGCTAAATGAAAAAC	0.517000													7	98					0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44892893	44892893	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:44892893G>A	ENST00000341255.3	-	2	1053	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	182								p.R182W(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGCGCATGCCGGAGCGGAGAC	0.622000													18	27					0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741127	53741127	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:53741127G>A	ENST00000333952.4	-	5	1018	c.853C>T	c.(853-855)Cac>Tac	p.H285Y	ZNF677_ENST00000598513.1_Missense_Mutation_p.H285Y			Q86XU0	ZN677_HUMAN	zinc finger protein 677	285					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)		TGTCCAGAGTGAATTCTCTGA	0.418000													6	60					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113344	161113344	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:161113344G>A	ENST00000523217.1	+	2	389	c.147G>A	c.(145-147)ccG>ccA	p.P49P	GABRA6_ENST00000274545.5_Silent_p.P49P|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	49					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCTGCGGCCGGGATTTGGAG	0.488000										TCGA Ovarian(5;0.080)			13	84					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516835	157516835	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:157516835C>T	ENST00000361835.3	-	3	362	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	FCRL5_ENST00000356953.4_Missense_Mutation_p.E69K|FCRL5_ENST00000368190.3_Missense_Mutation_p.E69K|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.E69K|FCRL5_ENST00000368189.3_Missense_Mutation_p.E69K	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	69	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TCTGGGGTTTCTCTTAGTATT	0.488000													6	68					0	0	1	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			25	131					0	0	1	0	0
TRMT44	152992	broad.mit.edu	37	4	8465746	8465746	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:8465746T>G	ENST00000389737.4	+	7	1238	c.1238T>G	c.(1237-1239)tTc>tGc	p.F413C	TRMT44_ENST00000513449.2_Missense_Mutation_p.F172C	NM_152544.2	NP_689757.2			tRNA methyltransferase 44 homolog (S. cerevisiae)																		AAGACCCTTTTCCCTGATGTT	0.423000													13	105					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408800	178408800	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:178408800G>A	ENST00000231188.5	-	10	2670	c.2492C>T	c.(2491-2493)tCc>tTc	p.S831F	GRM6_ENST00000517717.1_Missense_Mutation_p.S831F|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	831					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CATGCCGAGGGACACCGAGGC	0.577000													14	145					0	0	1	0	0
AREG	374	broad.mit.edu	37	4	75312457	75312457	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:75312457G>A	ENST00000395748.3	+	2	480	c.268G>A	c.(268-270)Gaa>Aaa	p.E90K	AREG_ENST00000264487.2_Missense_Mutation_p.E90K|AREG_ENST00000502307.1_Missense_Mutation_p.E90K	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	90					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			GTATGATAACGAACCACAAAT	0.448000													6	114					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3008995	3008995	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:3008995G>A	ENST00000602557.1	-	41	6513	c.5958C>T	c.(5956-5958)atC>atT	p.I1986I	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Silent_p.I1985I|CSMD1_ENST00000539096.1_Silent_p.I1985I|CSMD1_ENST00000602723.1_Silent_p.I1986I|CSMD1_ENST00000537824.1_Silent_p.I1985I|CSMD1_ENST00000520002.1_Silent_p.I1986I|CSMD1_ENST00000400186.3_Silent_p.I1986I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1986	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGGGGCTCAGGATCACACCAC	0.517000													3	24					0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60366661	60366661	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:60366661C>T	ENST00000371204.3	-	8	1349	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	436					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					ATAAAGGCTTCCCTTTTCTTA	0.532000													4	56					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103279436	103279436	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:103279436C>T	ENST00000376052.3	+	7	875	c.859C>T	c.(859-861)Cct>Tct	p.P287S	TPP2_ENST00000376065.4_Missense_Mutation_p.P287S			P29144	TPP2_HUMAN	tripeptidyl peptidase II	287					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGGGTAGCTCCTGGTGCTCA	0.463000													14	96					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490031	58490031	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:58490031T>C	ENST00000341164.4	-	7	2637	c.2017A>G	c.(2017-2019)Att>Gtt	p.I673V	ZNF606_ENST00000536132.1_Missense_Mutation_p.I583V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CCAGTGTGAATTCTCCGATGA	0.408000													7	75					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393573	154393573	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:154393573G>A	ENST00000435029.4	+	1	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	52	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCACCTACGATTTTGTGTT	0.483000													7	43					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628885	71628885	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:71628885C>T	ENST00000377276.2	-	1	154	c.124G>A	c.(124-126)Gat>Aat	p.D42N		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	42					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TCGAACTGATCCGAGCTGGCG	0.612000													7	40					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102957138	102957138	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:102957138C>T	ENST00000311734.2	+	5	799	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	IL1RL1_ENST00000393393.3_Missense_Mutation_p.L154F|IL1RL1_ENST00000233954.1_Missense_Mutation_p.L154F|IL1RL1_ENST00000404917.2_Missense_Mutation_p.L37F|IL1RL1_ENST00000409584.1_Missense_Mutation_p.L154F			Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	154	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TTGTCAGGCTCTTCAAGGATC	0.373000													13	117					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000404	16000404	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:16000404G>A	ENST00000221700.5	-	7	842	c.747C>T	c.(745-747)ctC>ctT	p.L249L	CYP4F2_ENST00000011989.7_Silent_p.L100L|CYP4F2_ENST00000592328.1_Silent_p.L249L	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	249					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CATCAGGGGTGAGATAATACA	0.562000													12	112					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705382	50705382	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:50705382G>A	ENST00000442544.2	+	9	2085	c.1469G>A	c.(1468-1470)gGa>gAa	p.G490E	DCC_ENST00000581580.1_Missense_Mutation_p.G145E|DCC_ENST00000412726.1_Missense_Mutation_p.G338E	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	490	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCACTGTGGGAAACCTGAAG	0.478000													8	43					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179564974	179564974	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:179564974C>T	ENST00000393371.2	-	1	375	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.E27K			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	27					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGCCTGTTCGCCATCTGTG	0.652000													8	48					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119739964	119739964	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:119739964G>A	ENST00000541757.1	+	13	1187	c.807G>A	c.(805-807)ctG>ctA	p.L269L	MARCO_ENST00000327097.4_Silent_p.L347L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	347	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCACAGGCCTGAAAGGAAGCA	0.557000													24	154					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055846	68055846	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:68055846C>T	ENST00000478136.1	+	2	567	c.77C>T	c.(76-78)tCc>tTc	p.S26F	FAM19A1_ENST00000496687.1_Missense_Mutation_p.S26F	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	26						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		TGCCATGGATCCCTTCAGCAC	0.502000													17	99					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84690343	84690343	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:84690343G>A	ENST00000286744.5	+	26	4679	c.4455G>A	c.(4453-4455)gcG>gcA	p.A1485A	ADAMTSL3_ENST00000567476.1_Silent_p.A1485A	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1485	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTGCCCAGCGAGGTAAGTGA	0.463000													9	53					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32024404	32024404	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:32024404C>T	ENST00000375244.3	-	23	8303	c.8102G>A	c.(8101-8103)gGt>gAt	p.G2701D	TNXB_ENST00000375247.2_Missense_Mutation_p.G2701D			P22105	TENX_HUMAN	tenascin XB	2761	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCGCTGGCCACCGTGGAAGCC	0.647000													9	34					0	0	1	0	0
ARSJ	79642	broad.mit.edu	37	4	114823932	114823932	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:114823932G>A	ENST00000315366.7	-	2	2164	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	ARSJ_ENST00000541197.1_Missense_Mutation_p.S433F	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	433						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TGCTGCCCAGGAGCCATTTTT	0.498000													11	79					0	0	1	0	0
TBC1D28	254272	broad.mit.edu	37	17	18541698	18541698	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:18541698C>T	ENST00000345096.4	-	7	1014	c.315G>A	c.(313-315)gcG>gcA	p.A105A	TBC1D28_ENST00000405044.1_Silent_p.A105A			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	105	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						GGCCCCGCACCGCCAGGGGAA	0.527000													11	125					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44121814	44121814	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:44121814C>T	ENST00000259746.9	+	22	2298	c.2115C>T	c.(2113-2115)ttC>ttT	p.F705F	TMEM63B_ENST00000323267.6_Silent_p.F705F			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	705						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CACCAGGGTTCCTAGCTCCCA	0.552000													12	127					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116135985	116135985	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:116135985A>C	ENST00000238379.5	-	2	1547	c.650T>G	c.(649-651)cTg>cGg	p.L217R	HDHD3_ENST00000374180.3_Missense_Mutation_p.L217R	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	217							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CACGGGGTCCAGTGCCTGTGG	0.602000													5	52					0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595357	44595357	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:44595357C>T	ENST00000372299.3	+	2	472	c.414C>T	c.(412-414)ccC>ccT	p.P138P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	138					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TAGGAGAGCCCAATATTCCAA	0.542000													12	53					0	0	1	0	0
MOB3C	148932	broad.mit.edu	37	1	47079024	47079024	+	Silent	SNP	G	G	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:47079024G>T	ENST00000371940.1	-	1	3113	c.39C>A	c.(37-39)gcC>gcA	p.A13A	MOB3C_ENST00000477318.1_5'UTR|MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Silent_p.A42A|MOB3C_ENST00000319928.3_5'UTR			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	0							metal ion binding										GCTGTCCAGGGGCTCGGACCT	0.627000													9	75					4.68919e-08	4.76964e-08	1	1	0
NOC2L	26155	broad.mit.edu	37	1	889175	889175	+	Missense_Mutation	SNP	C	C	T	rs143094540		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:889175C>T	ENST00000327044.6	-	8	924	c.875G>A	c.(874-876)cGc>cAc	p.R292H		NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	292						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GAGCAGCATGCGGCACTGCTT	0.672000													4	42					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183823942	183823942	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:183823942C>T	ENST00000415389.2	+	8	1418	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	HTR3E_ENST00000425359.2_Silent_p.L303L|HTR3E_ENST00000440596.2_Silent_p.L344L|HTR3E_ENST00000436361.2_Silent_p.L318L|HTR3E_ENST00000335304.2_Silent_p.L333L	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	318						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTGCCTGTCCCTGATGGTGGG	0.637000													13	72					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51089141	51089141	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:51089141A>T	ENST00000301180.5	+	15	1845	c.1811A>T	c.(1810-1812)aAa>aTa	p.K604I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	604						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATGCTCACAAAGGTAGTCAC	0.398000													25	134					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36577688	36577688	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:36577688C>T	ENST00000401500.2	+	13	1777	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	WDR62_ENST00000270301.7_Missense_Mutation_p.S581F	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	581					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACCACTCCTCCTCCATCACC	0.567000													4	9					0	0	1	0	0
RP11-704M14.1	0	broad.mit.edu	37	4	70080454	70080454	+	RNA	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:70080454G>A	ENST00000505646.1	+	0	618																											GGTGCAATGCGATCATTCTTT	0.363000													23	138					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158624456	158624456	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:158624456C>T	ENST00000368148.3	-	21	3161	c.2981G>A	c.(2980-2982)cGa>cAa	p.R994Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.R994Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	994	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R994L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTGACTTCTCGGGGGCTGCG	0.468000													6	37					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20487038	20487038	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:20487038G>A	ENST00000573854.1	+	8	1155	c.1041G>A	c.(1039-1041)gaG>gaA	p.E347E	ACSM2A_ENST00000536134.1_Silent_p.E119E|ACSM2A_ENST00000575690.1_Silent_p.E347E|ACSM2A_ENST00000219054.6_Silent_p.E347E|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.E347E|ACSM2A_ENST00000417235.2_Silent_p.E268E	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	347					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.E347E(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AAACTCTGGAGAACTGGAGGG	0.517000													12	160					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10239580	10239580	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:10239580C>T	ENST00000377157.3	+	26	4145	c.3084C>T	c.(3082-3084)ccC>ccT	p.P1028P	UBE4B_ENST00000253251.8_Silent_p.P1140P|UBE4B_ENST00000343090.6_Silent_p.P1269P	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1269					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCACGGACCCCTTCAACCGGC	0.607000													5	100					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132440125	132440125	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:132440125A>C	ENST00000370828.3	-	5	1459	c.935T>G	c.(934-936)aTg>aGg	p.M312R	GPC4_ENST00000535467.1_Missense_Mutation_p.M242R	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	312					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GATGGGATCCATGACCGATTC	0.428000													16	110					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281077	49281077	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:49281077C>T	ENST00000282018.3	+	1	127	c.124C>T	c.(124-126)Cca>Tca	p.P42S		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	42					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGAATTTTTCCCAATTGTATA	0.398000													8	80					0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110026626	110026626	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:110026626G>A	ENST00000369870.3	+	1	66	c.51G>A	c.(49-51)cgG>cgA	p.R17R		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	17										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		tggagcggcggGTGCCGAGTC	0.746000													3	9					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100131402	100131402	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:100131402C>T	ENST00000394897.1	-	5	486	c.404G>A	c.(403-405)gGa>gAa	p.G135E	ADH6_ENST00000394899.2_Missense_Mutation_p.G135E|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000237653.7_Missense_Mutation_p.G135E|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000504257.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	135					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TATTGATTTTCCCTTGCAGGT	0.368000													11	44					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39213377	39213377	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:39213377G>A	ENST00000426016.1	-	24	3676	c.3590C>T	c.(3589-3591)tCa>tTa	p.S1197L	SOS1_ENST00000402219.2_Missense_Mutation_p.S1197L|SOS1_ENST00000395038.2_Missense_Mutation_p.S1182L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1197					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTCTGATATTGAATATCGTGG	0.453000									Noonan syndrome				13	100					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226605	149226605	+	Missense_Mutation	SNP	C	C	T	rs147106585		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:149226605C>T	ENST00000407073.1	+	9	2090	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S	MBD5_ENST00000404807.1_Missense_Mutation_p.P365S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	365	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGACCCTATTCCTAGTAAACC	0.458000													15	124					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184075410	184075410	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:184075410C>T	ENST00000265593.4	-	7	941	c.770G>A	c.(769-771)gGa>gAa	p.G257E	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.G257E|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Missense_Mutation_p.G257E|CLCN2_ENST00000434054.2_Missense_Mutation_p.G213E	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	257						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCCTACCTCCAATAGGTGC	0.647000													16	67					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21150466	21150466	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:21150466C>T	ENST00000255882.6	-	18	2331	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	PI4KA_ENST00000572273.1_Missense_Mutation_p.E691K	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	691					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTGCCCTCTCGCTGGCTCGC	0.587000													6	29					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196648872	196648872	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:196648872G>A	ENST00000367429.4	+	6	979	c.739G>A	c.(739-741)Gga>Aga	p.G247R	CFH_ENST00000359637.2_Missense_Mutation_p.G183R|CFH_ENST00000439155.2_Missense_Mutation_p.G247R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	247	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGTGAAAGAGGAGATGCTGT	0.323000													4	28					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24483983	24483983	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:24483983G>A	ENST00000355123.4	-	22	3117	c.2674C>T	c.(2674-2676)Cat>Tat	p.H892Y	ITSN2_ENST00000406921.3_Missense_Mutation_p.H892Y|ITSN2_ENST00000361999.3_Missense_Mutation_p.H865Y	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	892					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTGTCCATGAATAGGTGAT	0.338000													7	57					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52714916	52714916	+	Silent	SNP	G	G	A	rs148290789		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:52714916G>A	ENST00000293670.3	-	1	266	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	68	Head.				epidermis development	keratin filament	structural molecule activity	p.F68F(1)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCGGTAGCCGAAGCTGCGTC	0.711000													4	56					0	0	1	0	0
PF4V1	5197	broad.mit.edu	37	4	74719578	74719578	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:74719578G>A	ENST00000226524.3	+	2	353	c.179G>A	c.(178-180)aGc>aAc	p.S60N		NM_002620.2	NP_002611.1	P10720	PF4V_HUMAN	platelet factor 4 variant 1	60					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CACATCACCAGCCTGGAGGTG	0.622000													4	36					0	0	1	0	0
ZNF678	339500	broad.mit.edu	37	1	227843440	227843440	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:227843440G>A	ENST00000343776.4	+	4	1834	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S	ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.G552S			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	552					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				ATGTGGAAAAGGTTTTTACCA	0.353000													3	25					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92258768	92258768	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:92258768G>A	ENST00000435962.2	-	9	1313	c.990C>T	c.(988-990)acC>acT	p.T330T	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000360594.5_Silent_p.T330T|TC2N_ENST00000340892.5_Silent_p.T330T	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	330						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GTGTGCTAAGGGTTCTGAGTG	0.338000													12	86					0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117801	58117801	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:58117801C>T	ENST00000332854.6	+	3	1128	c.908C>T	c.(907-909)tCc>tTc	p.S303F	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGCAAATCCTTTCGCCAG	0.443000													10	57					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860793	860793	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:860793G>A	ENST00000314167.4	-	21	2933	c.2823C>T	c.(2821-2823)gcC>gcT	p.A941A	GAK_ENST00000511163.1_Silent_p.A862A|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	941					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCAGGGGAGGGGCCGGGCTTG	0.677000													9	87					0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879168	209879168	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:209879168G>A	ENST00000367028.2	+	3	270	c.101G>A	c.(100-102)gGa>gAa	p.G34E	HSD11B1_ENST00000261465.1_Missense_Mutation_p.G34E|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000367027.3_Missense_Mutation_p.G34E	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1	34					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	ATGCTCCAAGGAAAGAAAGTG	0.517000													8	81					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247275	142247275	+	RNA	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:142247275C>T	ENST00000390361.3	-	0	230																											AACTCTGGGCCCTGCCCCAGG	0.527000													4	68					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427124	10427124	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:10427124G>A	ENST00000245503.5	-	36	5637	c.5253C>T	c.(5251-5253)ctC>ctT	p.L1751L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.L1751L|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1751					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCTTCCTGGAGAATGTCCT	0.448000													9	91					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97770818	97770818	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:97770818C>T	ENST00000297293.5	+	3	634	c.341C>T	c.(340-342)tCa>tTa	p.S114L	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	114					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAATATTTCACTCCCAGCT	0.453000													12	149					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45810877	45810877	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:45810877G>A	ENST00000397928.1	+	10	1854	c.1409G>A	c.(1408-1410)aGt>aAt	p.S470N	TRPM2_ENST00000397932.2_Missense_Mutation_p.S470N|TRPM2_ENST00000300482.5_Missense_Mutation_p.S470N|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.S470N	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	470						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATTGCCCGCAGTGAGATCTTC	0.582000													13	73					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852712	63852712	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:63852712C>T	ENST00000279873.7	+	10	3900	c.3490C>T	c.(3490-3492)Cct>Tct	p.P1164S	ARID5B_ENST00000309334.5_Missense_Mutation_p.P921S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1164					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGCATTTACCCTTTAGCTGC	0.488000													14	121					0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70149553	70149553	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:70149553G>A	ENST00000374299.3	-	2	439	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	SLC7A3_ENST00000298085.4_Missense_Mutation_p.L99F			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	99					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TAGCTGTAGAGATATGCCGAA	0.557000													4	13					0	0	1	0	0
FHIT	2272	broad.mit.edu	37	3	60522612	60522612	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:60522612C>T	ENST00000468189.1	-	5	454	c.84G>A	c.(82-84)agG>agA	p.R28R	FHIT_ENST00000341848.4_Silent_p.R28R|FHIT_ENST00000492590.1_Silent_p.R28R|FHIT_ENST00000476844.1_Silent_p.R28R			P49789	FHIT_HUMAN	fragile histidine triad	28	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CCACAGGTTTCCTATTCACAA	0.398000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				7	38					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160031010	160031010	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:160031010C>T	ENST00000327245.5	-	20	4045	c.3199G>A	c.(3199-3201)Gat>Aat	p.D1067N		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1067					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTCCAATATCAGCAGCTTGA	0.403000													9	101					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42237025	42237025	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:42237025C>T	ENST00000541110.1	-	5	872	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	TRERF1_ENST00000372922.4_Missense_Mutation_p.A102T|TRERF1_ENST00000354325.2_Missense_Mutation_p.A102T|TRERF1_ENST00000340840.2_Missense_Mutation_p.A102T|TRERF1_ENST00000372917.4_Missense_Mutation_p.A102T			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	102					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTTGAGTTGGCCAGGTTTCCA	0.582000													10	210					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578875	9578875	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:9578875C>T	ENST00000301480.4	-	10	961	c.748G>A	c.(748-750)Gac>Aac	p.D250N		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAAAGGAGGTCTTTTGCATAC	0.373000													10	70					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461315	11461315	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:11461315C>T	ENST00000279575.1	-	3	635	c.602G>A	c.(601-603)gGa>gAa	p.G201E	PRB4_ENST00000535904.1_Missense_Mutation_p.G201E|PRB4_ENST00000445719.2_Missense_Mutation_p.G132E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	264	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTGTGGCTTTCCAGGAGGTGG	0.632000										HNSCC(22;0.051)			27	281					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883438	7883438	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:7883438C>T	ENST00000542353.1	-	6	942	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	CLEC4C_ENST00000354629.5_Missense_Mutation_p.R120Q|CLEC4C_ENST00000360345.3_Missense_Mutation_p.R151Q|CLEC4C_ENST00000540085.1_Missense_Mutation_p.R120Q	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	151	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTGCCAATGTCGCCGACCCCC	0.443000													14	84					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48622173	48622173	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:48622173C>T	ENST00000328333.8	-	34	4148	c.4041G>A	c.(4039-4041)ggG>ggA	p.G1347G	COL7A1_ENST00000454817.1_Silent_p.G1347G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1347	Interrupted collagenous region.|Triple-helical region.		G -> R (in RDEB; localized type; mild).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTACCGGCTCCCCCTTTGGGC	0.657000													11	53					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64017527	64017527	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:64017527A>G	ENST00000443617.2	-	18	3619	c.3532T>C	c.(3532-3534)Ttc>Ctc	p.F1178L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1178					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CCGTCACTGAACAGTGGCGTT	0.473000													7	39					0	0	1	0	0
PGM2	55276	broad.mit.edu	37	4	37846151	37846151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:37846151C>T	ENST00000381967.4	+	7	986	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	PGM2_ENST00000544359.1_Missense_Mutation_p.P157S|PGM2_ENST00000537241.1_Missense_Mutation_p.P136S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	296					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATACCCGAATCCCGAAGAGGG	0.373000													13	87					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145317513	145317513	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:145317513G>A	ENST00000511217.1	+	1	74	c.22G>A	c.(22-24)Gat>Aat	p.D8N	SH3RF2_ENST00000359120.4_Missense_Mutation_p.D8N			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	8							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTTACTTGATCTTCTGGA	0.512000													14	93					0	0	1	0	0
POFUT2	23275	broad.mit.edu	37	21	46696962	46696962	+	Silent	SNP	G	G	A	rs146423023		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:46696962G>A	ENST00000331343.7	-	6	827	c.801C>T	c.(799-801)atC>atT	p.I267I	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000349485.5_Silent_p.I267I	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	267					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CCTGGAAGGGGATCCTGTCTG	0.562000													16	81					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531821	7531821	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:7531821C>T	ENST00000313599.3	-	9	2181	c.2124G>A	c.(2122-2124)caG>caA	p.Q708Q	CD163L1_ENST00000416109.2_Silent_p.Q718Q|CD163L1_ENST00000396630.1_Silent_p.Q708Q|CD163L1_ENST00000544331.1_Intron			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	708	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACGGCACCCTGGACATTCA	0.488000													7	68					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256892	140256892	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140256892A>T	ENST00000398631.2	+	1	1835	c.1835A>T	c.(1834-1836)cAa>cTa	p.Q612L	PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACGAGTTGCAACCGGCGGCG	0.677000													10	73					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445648	10445648	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:10445648G>A	ENST00000326756.3	-	3	2743	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTAACACTGGCGTGGCAACA	0.458000													6	54					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827110	96827110	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:96827110G>A	ENST00000371270.3	-	3	430	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C8_ENST00000539050.1_Silent_p.I26I|CYP2C8_ENST00000535898.1_Silent_p.I10I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	112					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGCTGGAAATGATTCCTAATA	0.488000													6	42					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97347544	97347544	+	Silent	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:97347544A>G	ENST00000216639.3	+	13	1339	c.1190A>G	c.(1189-1191)tAa>tGa	p.*397*	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	0						cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		GTCCAGAAGTAATTCAGATGC	0.318000													5	12					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49458308	49458308	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:49458308C>T	ENST00000358791.5	+	4	460	c.360C>T	c.(358-360)ttC>ttT	p.F120F	BCAS4_ENST00000371608.2_Silent_p.F120F|BCAS4_ENST00000262591.5_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	120						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CTCAGGCCTTCGTCAAGATGG	0.647000													5	33					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158436086	158436086	+	Silent	SNP	C	C	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:158436086C>A	ENST00000289451.2	+	1	815	c.735C>A	c.(733-735)ctC>ctA	p.L245L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CCTCCCATCTCATTGTGGTAA	0.438000													7	66					5.68852e-11	5.80034e-11	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42167079	42167079	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:42167079G>A	ENST00000320955.6	-	23	4690	c.4463C>T	c.(4462-4464)tCc>tTc	p.S1488F		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1488					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATGGCCGGGGAGGCGGCCAT	0.632000													4	44					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3165541	3165541	+	Silent	SNP	G	G	A	rs142004102		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:3165541G>A	ENST00000382192.3	+	3	448	c.243G>A	c.(241-243)aaG>aaA	p.K81K	ZNF205_ENST00000219091.4_Silent_p.K81K|ZNF205-AS1_ENST00000572691.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						ACGGCTCTAAGGAGAAAGCTC	0.637000													3	23					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277661	113277661	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:113277661C>T	ENST00000297405.5	-	60	9911	c.9667G>A	c.(9667-9669)Gga>Aga	p.G3223R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3183R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3153R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3054R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3223	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGCATTACTCCACTCCATGTG	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			23	83					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122348866	122348866	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:122348866G>A	ENST00000398250.1	+	7	1020	c.668G>A	c.(667-669)aGa>aAa	p.R223K	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R213K|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R160K|PPAPDC1A_ENST00000398248.1_Missense_Mutation_p.D73N	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	223					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		ATTTGCTACAGACAGCACTAT	0.493000													7	113					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44951727	44951727	+	Silent	SNP	C	C	T	rs142547927		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:44951727C>T	ENST00000296125.4	+	11	1541	c.1473C>T	c.(1471-1473)acC>acT	p.T491T		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	491					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTAATTTCACCGTGATTCTTA	0.448000													12	79					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61967799	61967799	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:61967799C>T	ENST00000280772.1	-	10	1380	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	ANK3_ENST00000503366.1_Missense_Mutation_p.A380T|ANK3_ENST00000373827.2_Missense_Mutation_p.A391T	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	397					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTCACCAGGGCTTTGGCATTG	0.512000													6	71					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73951085	73951085	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:73951085G>A	ENST00000358602.4	-	30	7156	c.7040C>T	c.(7039-7041)tCa>tTa	p.S2347L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.S2234L|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S2096L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2347					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACCTCCTGAAATGTTTGA	0.453000													14	119					0	0	1	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31728487	31728487	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:31728487G>A	ENST00000493662.2	+	20	1940	c.1884G>A	c.(1882-1884)atG>atA	p.M628I	MSH5_ENST00000395853.1_Missense_Mutation_p.M285I|MSH5_ENST00000534153.4_Missense_Mutation_p.M628I|MSH5_ENST00000375703.3_Missense_Mutation_p.M611I|MSH5_ENST00000375755.3_Missense_Mutation_p.M611I|MSH5_ENST00000375742.3_Missense_Mutation_p.M628I|MSH5_ENST00000375740.3_Missense_Mutation_p.M628I|MSH5_ENST00000375750.3_Missense_Mutation_p.M611I|MSH5_ENST00000431848.2_Missense_Mutation_p.M310I																							TCACATTCATGGCCCTGGTAG	0.567000													27	64					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969501	99969501	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:99969501T>A	ENST00000298999.3	+	5	1933	c.1630T>A	c.(1630-1632)Tct>Act	p.S544T	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S544T	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		ATTTGGTGTATCTTTTCCTGA	0.418000													5	98					0	0	1	0	0
BCL2L2	599	broad.mit.edu	37	14	23777019	23777019	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:23777019G>A	ENST00000250405.5	+	3	272	c.43G>A	c.(43-45)Gca>Aca	p.A15T	BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A15T|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A15T	NM_001199839.1|NM_004050.4	NP_001186768.1|NP_004041.1			BCL2-like 2											central_nervous_system(1)|lung(4)|prostate(1)	6	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00654)		GGCTCTGGTGGCAGACTTTGT	0.597000													4	117					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740132	140740132	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140740132G>A	ENST00000522605.1	+	1	430	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAATTGGCGAATCCACTAA	0.368000													4	57					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938776	132938776	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:132938776C>T	ENST00000275191.2	-	1	541	c.434G>A	c.(433-435)gGc>gAc	p.G145D	TAAR2_ENST00000367931.1_Missense_Mutation_p.G190D|TAAR2_ENST00000537809.1_Missense_Mutation_p.G145D	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	190						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GATGTCATAGCCCTCTATTCC	0.488000													6	54					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45950945	45950945	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:45950945C>T	ENST00000323084.4	-	4	679	c.614G>A	c.(613-615)aGa>aAa	p.R205K	TSPEAR_ENST00000397916.1_Missense_Mutation_p.R137K	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	205	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GCCTTTGGCTCTCCTCCGGCT	0.582000													3	19					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66631274	66631274	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:66631274G>A	ENST00000393960.1	-	12	1620	c.1339C>T	c.(1339-1341)Ctt>Ttt	p.L447F	PC_ENST00000355677.3_Missense_Mutation_p.L447F|PC_ENST00000393955.2_Missense_Mutation_p.L447F|PC_ENST00000393958.2_Missense_Mutation_p.L447F|PC_ENST00000524491.1_Missense_Mutation_p.L407F	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	447	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AACTCCGCAAGGGCCCTGCTC	0.662000													12	90					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216757	3216757	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:3216757C>T	ENST00000602557.1	-	22	3779	c.3224G>A	c.(3223-3225)gGa>gAa	p.G1075E	CSMD1_ENST00000542608.1_Missense_Mutation_p.G1074E|CSMD1_ENST00000539096.1_Missense_Mutation_p.G1074E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G1075E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G1074E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G1075E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G1075E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1075	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAAACGATATCCCAGGAAGCA	0.567000													5	69					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64649430	64649430	+	RNA	SNP	C	C	T	rs2671984		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:64649430C>T	ENST00000587624.1	+	0	1211																											TTCGCAGCAGCTCCTGCAGCA	0.512000													4	73					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215812177	215812177	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:215812177G>A	ENST00000272895.7	-	48	7427	c.7208C>T	c.(7207-7209)gCc>gTc	p.A2403V	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.A2085V	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2403	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCTATCAAGGCCAGTGCAGT	0.408000													13	100					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811429	23811429	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:23811429C>T	ENST00000314520.3	+	1	976	c.500C>T	c.(499-501)tCc>tTc	p.S167F	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	167						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)		TCCTCCCTTTCCTTGCCTGTG	0.637000													7	30					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152832211	152832211	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:152832211C>T	ENST00000367255.5	-	7	938	c.337G>A	c.(337-339)Gat>Aat	p.D113N	SYNE1_ENST00000466159.2_Missense_Mutation_p.D113N|SYNE1_ENST00000413186.2_Missense_Mutation_p.D113N|SYNE1_ENST00000367248.3_Missense_Mutation_p.D120N|SYNE1_ENST00000367253.4_Missense_Mutation_p.D113N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D113N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D120N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D120N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D113N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	113	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCAGCTATATCGGTGGAGTTA	0.328000										HNSCC(10;0.0054)			20	140					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43711742	43711742	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:43711742C>T	ENST00000398437.1	+	14	2251	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	ABCG1_ENST00000340588.4_Silent_p.I663I|ABCG1_ENST00000398449.3_Silent_p.I543I|ABCG1_ENST00000398457.2_Silent_p.I545I|ABCG1_ENST00000343687.3_Silent_p.I554I|ABCG1_ENST00000361802.2_Silent_p.I555I|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000347800.2_Silent_p.I540I			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	555					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCCTGCTGATCGGAGCCGCCT	0.677000													5	39					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2832427	2832427	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:2832427C>T	ENST00000317243.5	+	4	578	c.380C>T	c.(379-381)tCc>tTc	p.S127F	ZNF554_ENST00000591265.1_Missense_Mutation_p.S127F	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	127	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCTTCTTCCCACTTGGAG	0.488000													11	138					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024222	71024222	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:71024222C>T	ENST00000344526.5	+	3	442	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.P85S	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	85						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCCTGGATTCCCCTATGTCTA	0.473000													16	189					0	0	1	0	0
MARCH7	64844	broad.mit.edu	37	2	160605324	160605324	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:160605324C>T	ENST00000259050.3	+	5	1645	c.1523C>T	c.(1522-1524)cCt>cTt	p.P508L	MARCH7_ENST00000409591.1_Missense_Mutation_p.P470L|MARCH7_ENST00000409175.1_Missense_Mutation_p.P508L|MARCH7_ENST00000539065.1_Missense_Mutation_p.P452L	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	508							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATATTATTCCTTCAGGTTGG	0.398000													21	203					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7803628	7803628	+	Silent	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:7803628T>C	ENST00000380358.4	+	17	2881	c.2880T>C	c.(2878-2880)ggT>ggC	p.G960G	CHD3_ENST00000330494.7_Silent_p.G901G|CHD3_ENST00000358181.4_Silent_p.G901G	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	901					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTCTCAATGGTTACAAGATAG	0.468000													4	89					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813949	106813949	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:106813949G>A	ENST00000407775.2	+	8	1889	c.1639G>A	c.(1639-1641)Ggg>Agg	p.G547R	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G278R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G415R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G415R|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	547					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGCCCAAGGGGGCTACTTG	0.448000													9	111					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179427377	179427377	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:179427377C>T	ENST00000589042.1	-	326	83706	c.83482G>A	c.(83482-83484)Gaa>Aaa	p.E27828K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26187K|TTN_ENST00000460472.2_Missense_Mutation_p.E18763K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18888K|TTN_ENST00000342992.6_Missense_Mutation_p.E25260K|TTN_ENST00000342175.6_Missense_Mutation_p.E18955K|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26187	Ig-like 130.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTAGATTTTCAATTCTGAAA	0.368000													6	52					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38908950	38908950	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:38908950C>T	ENST00000302328.3	-	23	4012		c.e23-1		SCN11A_ENST00000450244.1_Splice_Site|SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTTGTTCTTTCTGTTAGAAAT	0.333000													8	48					0	0	1	0	0
GALNT15	117248	broad.mit.edu	37	3	16250049	16250049	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:16250049G>A	ENST00000339732.5	+	4	1454	c.951G>A	c.(949-951)tgG>tgA	p.W317*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.W317*	NM_054110.4	NP_473451.3			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15																		TGATTGACTGGAAGACTTTCC	0.498000													19	134					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25272954	25272954	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:25272954C>T	ENST00000218548.6	+	12	2022	c.1689C>T	c.(1687-1689)taC>taT	p.Y563Y	ATP12A_ENST00000381946.3_Silent_p.Y557Y	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	557					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ACACAGCCTACATGGAGCTGG	0.642000													4	98					0	0	1	0	0
BRMS1L	84312	broad.mit.edu	37	14	36302296	36302296	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:36302296C>T	ENST00000216807.7	+	3	545	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	BRMS1L_ENST00000543183.1_Missense_Mutation_p.R68C	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	116					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		TATGCAAATTCGTACAAAGGT	0.363000													3	10					0	0	1	0	0
GNGT2	2793	broad.mit.edu	37	17	47284154	47284154	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:47284154G>A	ENST00000511277.1	-	4	354	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	GNGT2_ENST00000507680.1_Missense_Mutation_p.P59S|GNGT2_ENST00000300406.2_Missense_Mutation_p.P59S|GNGT2_ENST00000503070.1_Missense_Mutation_p.P59S|GNGT2_ENST00000511673.1_Missense_Mutation_p.P59S|GNGT2_ENST00000515635.1_Missense_Mutation_p.P59S	NM_001198756.1	NP_001185685.1	O14610	GBGT2_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2	59					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TCCTTGAAGGGATTCTTGTCC	0.532000													10	79					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169951	57169951	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:57169951C>T	ENST00000371244.4	+	7	1162	c.1096C>T	c.(1096-1098)Cat>Tat	p.H366Y		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	366					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CCTGAAACCTCATCCAGAAAG	0.458000													9	64					0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8099816	8099816	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:8099816A>C	ENST00000223145.5	+	5	1461	c.904A>C	c.(904-906)Ata>Cta	p.I302L	GLCCI1_ENST00000474269.1_3'UTR	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	302										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TGTAGAAGGAATAAGTCCTGA	0.373000													4	61					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27800747	27800747	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:27800747C>T	ENST00000408964.2	+	1	1359	c.1308C>T	c.(1306-1308)ctC>ctT	p.L436L		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	436										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGTAGAGCTCACCTCTGAGG	0.468000													6	71					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34191063	34191063	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:34191063A>G	ENST00000373381.4	-	17	2758	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	821						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)				CCCGTGGTAAACCCCGATCAA	0.537000													3	32					0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64746761	64746761	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:64746761C>T	ENST00000557772.1	-	2	472	c.473G>A	c.(472-474)gGa>gAa	p.G158E	ESR2_ENST00000341099.4_Missense_Mutation_p.G158E|ESR2_ENST00000358599.5_Missense_Mutation_p.G158E|ESR2_ENST00000353772.3_Missense_Mutation_p.G158E|ESR2_ENST00000555483.1_Intron|ESR2_ENST00000267525.6_Missense_Mutation_p.G158E|ESR2_ENST00000357782.2_Missense_Mutation_p.G158E|ESR2_ENST00000554572.1_Missense_Mutation_p.G158E|ESR2_ENST00000555278.1_Missense_Mutation_p.G158E|ESR2_ENST00000542956.1_Missense_Mutation_p.G158E|ESR2_ENST00000553796.1_Missense_Mutation_p.G158E	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	158					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATAGTGATATCCCGATGCGTA	0.463000													33	212					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	93995633	93995633	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:93995633G>A	ENST00000553484.1	+	10	1208	c.1052_splice	c.e10-1	p.D352_splice	UNC79_ENST00000256339.4_Splice_Site_p.D175_splice|UNC79_ENST00000555664.1_Splice_Site_p.D352_splice|UNC79_ENST00000393151.2_Splice_Site_p.D352_splice			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	352						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TTTCAATAGGGACCACAGTGA	0.353000													6	40					0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46313906	46313906	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:46313906C>T	ENST00000221538.3	-	2	985	c.843G>A	c.(841-843)cgG>cgA	p.R281R	RSPH6A_ENST00000600188.1_Silent_p.R17R|RSPH6A_ENST00000597055.1_Silent_p.R281R	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	281						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CGCCTCCACTCCGGGTGAACA	0.627000													25	155					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123477138	123477138	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:123477138G>A	ENST00000280562.5	-	15	2517	c.2312C>T	c.(2311-2313)cCg>cTg	p.P771L	PITPNM2_ENST00000392428.1_Missense_Mutation_p.P492L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P771L|PITPNM2_ENST00000542749.1_Missense_Mutation_p.P771L			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	771	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TTCCAGCAGCGGCTCCAGGCG	0.682000													4	97					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16354929	16354929	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:16354929G>A	ENST00000354981.2	-	20	3480	c.3323C>T	c.(3322-3324)tCa>tTa	p.S1108L	KIF16B_ENST00000378003.2_Missense_Mutation_p.S334L|KIF16B_ENST00000355755.3_Missense_Mutation_p.S1108L|KIF16B_ENST00000408042.1_Missense_Mutation_p.S1108L	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1108				S -> L (in Ref. 6; AAH34984).	cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AACCAGGTGTGATTTTTCAGC	0.458000													5	54					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762145	101762145	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:101762145A>T	ENST00000334289.3	-	9	1627	c.1032T>A	c.(1030-1032)aaT>aaA	p.N344K		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	344	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GATGAATGCCATTTAGATTTG	0.458000													5	113					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101815988	101815988	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:101815988T>A	ENST00000506729.1	-	2	680	c.509A>T	c.(508-510)aAa>aTa	p.K170I	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.K170I|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.K170I|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.K170I|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.K170I			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	170						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCATATTACTTTTTTTCTGTC	0.333000													13	67					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524694	37524694	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:37524694G>A	ENST00000216223.5	-	10	1296	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	366					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGAGGTGGAAGAAGAAGTAAC	0.587000													17	41					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260089	90260089	+	RNA	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:90260089A>G	ENST00000471857.1	+	0	373																											AACCAGGGAAAGCCCCTGAGC	0.498000													28	146					0	0	1	0	0
METTL20	254013	broad.mit.edu	37	12	31815175	31815175	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:31815175C>T	ENST00000357721.3	+	2	503	c.288C>T	c.(286-288)taC>taT	p.Y96Y	METTL20_ENST00000395763.3_Silent_p.Y96Y|METTL20_ENST00000538463.1_Silent_p.Y96Y|METTL20_ENST00000412352.2_Silent_p.Y96Y|METTL20_ENST00000538391.1_Silent_p.Y96Y	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	96						cytoplasm	protein methyltransferase activity			lung(2)|stomach(1)	3						GGGCAATCTACTGGCCAGGAG	0.507000													6	60					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70225987	70225987	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:70225987C>T	ENST00000310961.5	+	4	533	c.115C>T	c.(115-117)Ctt>Ttt	p.L39F	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L34F|LRRC7_ENST00000370958.1_Missense_Mutation_p.L72F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	34						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCACTGCAGTCTTCAGCAGGT	0.443000													5	46					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394656	86394656	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:86394656G>A	ENST00000361669.2	+	2	1294	c.195G>A	c.(193-195)ggG>ggA	p.G65G	GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.G65G|GRM3_ENST00000394720.2_Silent_p.G63G|GRM3_ENST00000536043.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	65					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAGACCGAGGGATTCAACGCC	0.413000													10	95					0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179322377	179322377	+	Silent	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:179322377T>C	ENST00000476781.1	-	1	65	c.36A>G	c.(34-36)agA>agG	p.R12R	MRPL47_ENST00000259038.2_Silent_p.R12R|MRPL47_ENST00000392659.2_5'UTR	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	12					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CGGATGAAACTCTCCTACAAA	0.527000													18	127					0	0	1	0	0
BPIFB3	359710	broad.mit.edu	37	20	31657762	31657762	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:31657762G>A	ENST00000375494.3	+	11	1217		c.e11+1			NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3						innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										CCCTGGAACGGTAACTTGGGA	0.562000													22	154					0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161811	57161811	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:57161811G>A	ENST00000371244.4	+	6	833	c.767G>A	c.(766-768)cGa>cAa	p.R256Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	256	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CCACTGAAACGAGCAACTATC	0.373000													8	179					0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432498	72432498	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:72432498C>T	ENST00000544411.1	+	3	1021	c.534C>T	c.(532-534)ttC>ttT	p.F178F	SENP8_ENST00000340912.4_Silent_p.F178F|SENP8_ENST00000544171.1_Silent_p.F178F|SENP8_ENST00000542035.2_Silent_p.F178F	NM_001172109.1|NM_001172110.1	NP_001165580.1|NP_001165581.1	Q96LD8	SENP8_HUMAN	SUMO/sentrin specific peptidase family member 8	178					proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GTCAGAACTTCTTTAGGCAAC	0.458000													9	75					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103240729	103240729	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:103240729C>T	ENST00000553106.1	-	9	1385	c.912_splice	c.e9-1	p.E305_splice	PAH_ENST00000307000.2_Splice_Site_p.E300_splice	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	305					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGCCAATTTCCTGTAATTGG	0.493000													8	65					0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31515220	31515220	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:31515220C>T	ENST00000511367.2	-	7	1409	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	DROSHA_ENST00000442743.1_Missense_Mutation_p.E352K|DROSHA_ENST00000344624.3_Missense_Mutation_p.E389K|DROSHA_ENST00000513349.1_Missense_Mutation_p.E352K	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	389					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GGCTCTTTTTCCTTGATTGAG	0.458000													4	139					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058503	56058503	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:56058503G>A	ENST00000313022.2	-	1	63	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CCGTAAGGATGAAGTCAGGCA	0.388000													11	70					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87728918	87728918	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:87728918C>T	ENST00000436978.1	+	45	7446	c.6966C>T	c.(6964-6966)atC>atT	p.I2322I	PTPN13_ENST00000316707.6_Silent_p.I2126I|PTPN13_ENST00000411767.2_Silent_p.I2317I|PTPN13_ENST00000427191.2_Silent_p.I2298I|PTPN13_ENST00000511467.1_Silent_p.I2322I	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2317	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GAGAAAAAATCAAATGCCAGC	0.468000													18	126					0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55795213	55795213	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:55795213G>A	ENST00000379665.2	+	1	1000	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCCCTTAGGGAATTCACCAA	0.353000													7	33					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31318615	31318615	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:31318615C>T	ENST00000269197.5	+	11	1247	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TCTCCAGAGCCTGGTTTCTGT	0.453000													5	41					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257305	41257305	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:41257305C>T	ENST00000307221.4	-	1	825	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000482652.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	232					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTTGCAAAGCCCTCTTCATTG	0.348000													27	72					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39115076	39115076	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:39115076G>A	ENST00000355612.2	-	7	1288	c.1253C>T	c.(1252-1254)cCt>cTt	p.P418L	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	418	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CCAAGGGGAAGGCTCACATTT	0.512000													8	64					0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92378928	92378928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:92378928C>T	ENST00000276609.3	+	14	1848	c.1609C>T	c.(1609-1611)Ctt>Ttt	p.L537F	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.L537F|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L537F	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	537	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAATCAGCCACTTGATGATAT	0.303000													15	90					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78774027	78774027	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:78774027G>A	ENST00000545128.1	+	12	2097	c.1559G>A	c.(1558-1560)gGa>gAa	p.G520E	PCSK5_ENST00000376752.4_Missense_Mutation_p.G520E|PCSK5_ENST00000376767.3_Missense_Mutation_p.G520E	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	520	Homo B/P.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCAGGAGAGGAGACCTGGCC	0.567000													6	52					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423485	26423485	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:26423485C>T	ENST00000335473.7	+	43	7795	c.7545C>T	c.(7543-7545)atC>atT	p.I2515I	MYO18B_ENST00000536101.1_Silent_p.I2515I|MYO18B_ENST00000407587.2_Silent_p.I2516I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2515						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGGCTCCATCGTGTCCTTCA	0.587000													8	27					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62043903	62043903	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:62043903C>T	ENST00000435607.1	-	7	1114	c.1036_splice	c.e7-1	p.G346_splice	SCN4A_ENST00000578147.1_Splice_Site_p.G346_splice	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	346					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTAGAAGTTCCCTTTGGGAG	0.582000													4	23					0	0	1	0	0
LCORL	254251	broad.mit.edu	37	4	17910842	17910842	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:17910842G>A	ENST00000382226.5	-	5	665	c.557C>T	c.(556-558)tCa>tTa	p.S186L	LCORL_ENST00000382224.1_Missense_Mutation_p.S102L|LCORL_ENST00000539056.1_Missense_Mutation_p.S99L|LCORL_ENST00000326877.3_Missense_Mutation_p.S186L	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGGTCCAATTGAACCATTTCT	0.378000													5	56					0	0	1	0	0
CYP27B1	1594	broad.mit.edu	37	12	58160754	58160754	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:58160754G>A	ENST00000228606.4	-	1	280	c.71C>T	c.(70-72)tCc>tTc	p.S24F	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	24					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GTAGCCTAGGGAGGCGCCCAA	0.632000													16	192					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134084242	134084242	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:134084242C>T	ENST00000264360.4	+	4	3734	c.2908C>T	c.(2908-2910)Cgc>Tgc	p.R970C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	970					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TGCTGATTATCGCAGCAATCT	0.532000													11	56					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99150185	99150185	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:99150185G>A	ENST00000370992.4	-	6	859	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	RRP12_ENST00000315563.6_Intron|RRP12_ENST00000414986.1_Missense_Mutation_p.P189S|RRP12_ENST00000536831.1_Missense_Mutation_p.P56S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	250						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTCACCTTGGGCTTGGGATGC	0.622000													4	36					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457668	41457668	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:41457668C>T	ENST00000400454.1	-	23	4470	c.3993G>A	c.(3991-3993)acG>acA	p.T1331T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1331	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCCATCAATCGTTACTAGAC	0.438000													6	60					0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42636342	42636342	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:42636342C>T	ENST00000315323.3	+	1	1418	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	429					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATCGGCACGTCCTTCCTCCTG	0.637000													12	108					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853485	2853485	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:2853485C>T	ENST00000334241.4	+	4	1560	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.H473H	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGAATGCACCCTGAAGACA	0.408000													5	56					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75574908	75574908	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:75574908G>A	ENST00000423381.1	-	22	1755	c.1632C>T	c.(1630-1632)ctC>ctT	p.L544L	CAMK2G_ENST00000305762.7_Silent_p.L485L|CAMK2G_ENST00000322635.3_Silent_p.L483L|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000372765.1_Silent_p.L472L|CAMK2G_ENST00000322680.3_Silent_p.L512L|CAMK2G_ENST00000351293.3_Silent_p.L451L|CAMK2G_ENST00000394762.2_Silent_p.L489L	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	514					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					TGTACTGGGTGAGGCGGATGT	0.602000													4	43					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22337116	22337116	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:22337116C>T	ENST00000299853.5	+	18	1550	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	POLR3E_ENST00000359210.4_Silent_p.I461I|POLR3E_ENST00000564209.1_Silent_p.I461I|POLR3E_ENST00000418581.2_Silent_p.I425I	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	461					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ACCAGCGGATCCAAGTAGCCA	0.692000													5	42					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722746	145722746	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:145722746G>A	ENST00000292539.4	+	2	1086	c.169G>A	c.(169-171)Gag>Aag	p.E57K	PPP1R16A_ENST00000529009.1_3'UTR|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.E57K|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	57				Missing (in Ref. 1; BAC03452).		plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCCCCGGAAGGAGGCAGCCAG	0.647000													6	29					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531843	7531843	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:7531843C>T	ENST00000313599.3	-	9	2159	c.2102G>A	c.(2101-2103)gGa>gAa	p.G701E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G711E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G701E|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	701	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCAACTTTTCCAGCACACCT	0.478000													6	55					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38041380	38041380	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:38041380C>T	ENST00000599616.1	+	8	595	c.595C>T	c.(595-597)Cct>Tct	p.P199S	SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.P263S|SH3BP1_ENST00000442465.2_Missense_Mutation_p.P263S|SH3BP1_ENST00000336738.5_Missense_Mutation_p.P263S			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	263	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGACCACTCCCCTTCGATGAC	0.652000													17	97					0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19825212	19825212	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:19825212C>T	ENST00000344099.3	-	2	226	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ATCACATCTTCATAGAGCTTT	0.423000													6	60					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228434305	228434305	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:228434305G>A	ENST00000570156.2	+	14	4184	c.4110G>A	c.(4108-4110)ctG>ctA	p.L1370L	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.L1278L|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1278L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	352	Ig-like 14.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGCCACACTGAGCTGTGAGG	0.607000													4	64					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115614248	115614248	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:115614248G>A	ENST00000265440.7	-	3	423	c.243C>T	c.(241-243)gaC>gaT	p.D81D	TFEC_ENST00000484212.1_Silent_p.D171D|TFEC_ENST00000320239.7_Intron|TFEC_ENST00000393485.1_Intron	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	81	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GCAGAGGAGAGTCTGCTCCTT	0.328000													4	52					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11659918	11659918	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:11659918C>T	ENST00000262442.3	+	34	6840	c.6772C>T	c.(6772-6774)Ctg>Ttg	p.L2258L	DNAH9_ENST00000454412.2_Silent_p.L2258L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2258	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGGATTCCTCTGAACCCCAC	0.572000													14	174					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232600775	232600775	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:232600775G>A	ENST00000366630.1	-	8	2989	c.2631C>T	c.(2629-2631)tcC>tcT	p.S877S	SIPA1L2_ENST00000262861.4_Silent_p.S877S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	877					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGAACTCATTGGAGATCCCGA	0.473000													4	74					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156916114	156916114	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:156916114C>T	ENST00000257527.4	-	20	2399	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	ADAM19_ENST00000394020.1_Missense_Mutation_p.R776Q|ADAM19_ENST00000517905.1_Missense_Mutation_p.R774Q|ADAM19_ENST00000430702.2_Missense_Mutation_p.R507Q	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	774					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTTACCTTTCGCTTGCCCTG	0.502000													6	27					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912080	127912080	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:127912080G>A	ENST00000451402.1	-	8	1121	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	PPP6C_ENST00000373546.3_Missense_Mutation_p.R117C|PPP6C_ENST00000415905.1_Missense_Mutation_p.R242C|PPP6C_ENST00000373547.4_Missense_Mutation_p.R264C	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	264					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.R264C(3)|p.R301C(1)		NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTTCCACAACGATAGCAGTAA	0.403000													4	42					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76802333	76802333	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:76802333G>A	ENST00000312010.6	-	15	2445	c.2121C>T	c.(2119-2121)ctC>ctT	p.L707L	USP36_ENST00000542802.2_Silent_p.L707L|USP36_ENST00000449938.2_Silent_p.L407L	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	707					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GAGGTGGACGGAGGTCATTGC	0.562000													7	60					0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22337117	22337117	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:22337117C>T	ENST00000299853.5	+	18	1551	c.1384C>T	c.(1384-1386)Caa>Taa	p.Q462*	POLR3E_ENST00000359210.4_Nonsense_Mutation_p.Q462*|POLR3E_ENST00000564209.1_Nonsense_Mutation_p.Q462*|POLR3E_ENST00000418581.2_Nonsense_Mutation_p.Q426*	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	462					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCAGCGGATCCAAGTAGCCAA	0.687000													5	42					0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26610879	26610879	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:26610879G>A	ENST00000314675.7	-	7	666	c.587C>T	c.(586-588)gCc>gTc	p.A196V	UBXN11_ENST00000374223.1_Missense_Mutation_p.A73V|UBXN11_ENST00000374217.2_Missense_Mutation_p.A283V|UBXN11_ENST00000374221.3_Missense_Mutation_p.A316V|UBXN11_ENST00000374222.1_Missense_Mutation_p.A316V|UBXN11_ENST00000357089.4_Missense_Mutation_p.A283V	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	316						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CCTGTCCAAGGCCTTGTGCAT	0.647000													3	39					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784136	9784136	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:9784136C>T	ENST00000304374.2	+	1	879	c.483C>T	c.(481-483)gtC>gtT	p.V161V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	161					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGGTCATGGTCGGCCTGGCAT	0.622000													4	42					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67816141	67816141	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:67816141G>A	ENST00000255674.6	-	17	2591	c.2305C>T	c.(2305-2307)Cca>Tca	p.P769S	RTTN_ENST00000454359.1_Missense_Mutation_p.P769S|RTTN_ENST00000437017.1_Missense_Mutation_p.P769S	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	769							binding	p.P769T(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACTCACGATGGCTTTTTCACT	0.368000													4	75					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129756296	129756296	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:129756296G>A	ENST00000446488.3	-	4	484	c.381C>T	c.(379-381)tgC>tgT	p.C127C	NFRKB_ENST00000304521.5_Silent_p.C127C|NFRKB_ENST00000524794.1_Silent_p.C140C|NFRKB_ENST00000524746.1_Silent_p.C127C	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	127					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTGACTTGAAGCATAACTGCC	0.428000													17	131					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101515032	101515032	+	RNA	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:101515032C>T	ENST00000553692.1	+	0	28				MIR544A_ENST00000384855.1_RNA																							aaagcagattctgattcaggg	0.428000													3	22					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149618263	149618263	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:149618263C>T	ENST00000348628.6	-	14	1698	c.1033_splice	c.e14+1	p.V345_splice	CAMK2A_ENST00000398376.3_Splice_Site_p.V356_splice|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	345					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCTCCCTACCTTTGGTGTCT	0.562000													5	14					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112592422	112592422	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:112592422A>G	ENST00000341068.3	-	19	2915	c.2143T>C	c.(2143-2145)Tac>Cac	p.Y715H		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	715					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTCTGGTGGTAGTCTGAATTT	0.308000													7	32					0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74155587	74155587	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:74155587G>A	ENST00000269391.6	-	12	1265	c.1133C>T	c.(1132-1134)aCc>aTc	p.T378I	RNF157_ENST00000319945.6_Missense_Mutation_p.T378I	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157	378							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGGGACGGGGTGAGGGGCCC	0.547000													5	78					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140767861C>T	ENST00000519479.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAAAATTCCTTTGAGCTG	0.433000													5	35					0	0	1	0	0
R3HCC1L	27291	broad.mit.edu	37	10	99969502	99969502	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:99969502C>A	ENST00000298999.3	+	5	1934	c.1631C>A	c.(1630-1632)tCt>tAt	p.S544Y	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.S544Y	NM_014472.4	NP_055287.4			R3H domain and coiled-coil containing 1-like																		TTTGGTGTATCTTTTCCTGAT	0.423000													4	99					0.184627	0.185521	1	1	0
CNTN6	27255	broad.mit.edu	37	3	1414548	1414548	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:1414548G>A	ENST00000446702.2	+	14	2322	c.1695G>A	c.(1693-1695)agG>agA	p.R565R	CNTN6_ENST00000539053.1_Silent_p.R493R|CNTN6_ENST00000350110.2_Silent_p.R565R			Q9UQ52	CNTN6_HUMAN	contactin 6	565	Ig-like C2-type 6.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGATGATAAGGAATATTCAGT	0.373000													5	96					0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207827333	207827333	+	Missense_Mutation	SNP	G	G	A	rs150008911		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:207827333G>A	ENST00000272852.3	+	7	818	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	258					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TAACCACCCAGAAATGGTGAG	0.443000													10	53					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171504724	171504724	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:171504724C>T	ENST00000367742.3	+	13	2273	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	PRRC2C_ENST00000392078.3_Silent_p.F677F|PRRC2C_ENST00000426496.2_Silent_p.F675F|PRRC2C_ENST00000338920.4_Silent_p.F675F			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	675	Gln-rich.						protein C-terminus binding										CTCCACGATTCCAGCGGCAGC	0.393000													17	159					0	0	1	0	0
SPAG1	6674	broad.mit.edu	37	8	101232634	101232634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:101232634C>T	ENST00000388798.2	+	13	1854	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	SPAG1_ENST00000523302.1_Intron|SPAG1_ENST00000251809.3_Nonsense_Mutation_p.Q555*	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	555					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		CTGTGGACTCCAGCTAGCAAA	0.423000													13	116					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166003297	166003297	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:166003297C>T	ENST00000360093.3	-	12	2114	c.1623G>A	c.(1621-1623)atG>atA	p.M541I	SCN3A_ENST00000283254.7_Missense_Mutation_p.M541I|SCN3A_ENST00000409101.3_Missense_Mutation_p.M541I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	541						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TGTTTCCATCCATGGAGAAAA	0.423000													18	114					0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40366957	40366957	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:40366957G>T	ENST00000344138.4	+	8	1125	c.862G>T	c.(862-864)Gac>Tac	p.D288Y	GRAP2_ENST00000399090.2_Missense_Mutation_p.D175Y|GRAP2_ENST00000407075.3_Missense_Mutation_p.D288Y|GRAP2_ENST00000544756.1_Missense_Mutation_p.D216Y|GRAP2_ENST00000540310.1_Missense_Mutation_p.D222Y|GRAP2_ENST00000543252.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	288	SH3 2.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGGAGGATGACGAGCTGGG	0.657000													9	84					6.42651e-13	6.56897e-13	1	1	0
PRKD1	5587	broad.mit.edu	37	14	30135411	30135411	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:30135411G>A	ENST00000331968.5	-	3	636	c.407C>T	c.(406-408)tCc>tTc	p.S136F	PRKD1_ENST00000415220.2_Missense_Mutation_p.S136F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	136					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AAAGGTGGCGGAAGCTGTAAA	0.403000													9	70					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101639890	101639890	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:101639890G>A	ENST00000342239.3	-	16	4389	c.4298C>T	c.(4297-4299)cCg>cTg	p.P1433L	DNMBP_ENST00000543621.1_Missense_Mutation_p.P655L|DNMBP_ENST00000324109.4_Missense_Mutation_p.P1409L|DNMBP_ENST00000540316.1_Missense_Mutation_p.P345L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1409	Ser-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTCTTTTGGCGGAGGAGATGC	0.547000													18	133					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10467257	10467257	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:10467257C>T	ENST00000525621.1	-	18	3085	c.2604G>A	c.(2602-2604)cgG>cgA	p.R868R	TYK2_ENST00000524462.1_Silent_p.R683R|TYK2_ENST00000264818.6_Silent_p.R868R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	868	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGGGCTGCAGCCGGGTGAGGT	0.637000													3	39					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584975	179584975	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:179584975C>T	ENST00000589042.1	-	81	23618	c.23394G>A	c.(23392-23394)gtG>gtA	p.V7798V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.V7481V|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.V6554V|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7481	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAGCTTTTTCACGAATCGTG	0.433000													4	49					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122157	46122157	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:46122157C>T	ENST00000374366.3	-	8	1357	c.892G>A	c.(892-894)Gga>Aga	p.G298R	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.G372R|ZFAND4_ENST00000374371.2_Intron			Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	372							zinc ion binding										GGCAAGTTTCCTAAAAAATGT	0.438000													12	68					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160808	38160808	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:38160808C>T	ENST00000358582.4	-	4	990	c.242G>A	c.(241-243)aGa>aAa	p.R81K	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.R81K	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						AGTGTGAGTTCTCTTATGTTG	0.388000													14	105					0	0	1	0	0
VRK2	7444	broad.mit.edu	37	2	58315490	58315490	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:58315490T>G	ENST00000435505.2	+	9	1104	c.359T>G	c.(358-360)gTa>gGa	p.V120G	VRK2_ENST00000340157.4_Missense_Mutation_p.V120G|VRK2_ENST00000412104.2_Missense_Mutation_p.V120G|VRK2_ENST00000417641.2_Missense_Mutation_p.V120G|VRK2_ENST00000440705.2_Missense_Mutation_p.V97G			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	120	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						AGATTTATGGTAATGGAAAGA	0.328000													9	95					0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28878334	28878334	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:28878334G>A	ENST00000337120.5	+	1	4210	c.919G>A	c.(919-921)Gag>Aag	p.E307K	SH2B1_ENST00000359285.5_Missense_Mutation_p.E307K|SH2B1_ENST00000395532.4_Missense_Mutation_p.E307K|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.E307K	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	307	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|PH.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AAGTCGCCTGGAGTTCTTTGT	0.602000													5	49					0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27165450	27165450	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:27165450C>T	ENST00000288699.6	+	11	1430	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	DPYSL5_ENST00000401478.1_Silent_p.F424F	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	424					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAGACTTCAACCTGTATG	0.617000											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	34					0	0	1	0	0
CSN2	1447	broad.mit.edu	37	4	70823220	70823220	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:70823220C>T	ENST00000353151.3	-	5	458	c.447G>A	c.(445-447)ttG>ttA	p.L149L		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	149				L -> S (in Ref. 6; AA sequence).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						CCTGCTGCATCAAGGGCTGGA	0.522000													10	31					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106810973	106810973	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:106810973C>T	ENST00000407775.2	+	7	1011	c.761C>T	c.(760-762)tCc>tTc	p.S254F	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S122F|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S122F|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	254					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTTGCAAGTCCTGTGGCATC	0.468000													5	33					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231742193	231742193	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:231742193C>T	ENST00000326427.6	+	5	766	c.640C>T	c.(640-642)Ctg>Ttg	p.L214L	ITM2C_ENST00000409704.2_Silent_p.L152L|ITM2C_ENST00000335005.6_Silent_p.L167L|ITM2C_ENST00000326407.6_Silent_p.L177L	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	214	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAAGGAGGCCCTGGGGTCCTT	0.627000													13	73					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18661393	18661393	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:18661393G>A	ENST00000251296.1	+	4	696	c.313G>A	c.(313-315)Gag>Aag	p.E105K		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	105	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAGGCTGCCCGAGGTCCGGAT	0.612000													4	65					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616206	116616206	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:116616206G>A	ENST00000395715.3	-	4	2567	c.1990C>T	c.(1990-1992)Ctg>Ttg	p.L664L	TRPS1_ENST00000519076.1_Silent_p.L405L|TRPS1_ENST00000520276.1_Silent_p.L655L|TRPS1_ENST00000220888.5_Silent_p.L651L|TRPS1_ENST00000519674.1_Silent_p.L651L	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	651	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GATCCTTGCAGGTGATTTGCT	0.448000									Langer-Giedion syndrome				8	49					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234346951	234346951	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:234346951G>T	ENST00000264057.2	+	9	1023	c.1011G>T	c.(1009-1011)aaG>aaT	p.K337N	DGKD_ENST00000409813.3_Missense_Mutation_p.K293N	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	337	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGGGTGTGAAGTTCCTCAGAA	0.507000													11	109					0.000673444	0.000678348	1	1	0
DNAH2	146754	broad.mit.edu	37	17	7643748	7643748	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:7643748G>A	ENST00000572933.1	+	10	2847	c.1387G>A	c.(1387-1389)Gga>Aga	p.G463R	DNAH2_ENST00000570791.1_Missense_Mutation_p.G545R|DNAH2_ENST00000082259.3_Missense_Mutation_p.G545R|DNAH2_ENST00000389173.2_Missense_Mutation_p.G463R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	463	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTTCCGTGCCGGAATCAAGGA	0.617000													19	135					0	0	1	0	0
NAGA	4668	broad.mit.edu	37	22	42463816	42463816	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:42463816G>A	ENST00000396398.3	-	3	809	c.277C>T	c.(277-279)Ccg>Tcg	p.P93S	NAGA_ENST00000403363.1_Missense_Mutation_p.P93S|NAGA_ENST00000402937.1_Missense_Mutation_p.P93S	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	93					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTGGGATCCGGCATCAGGCGG	0.607000													4	152					0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38934372	38934372	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:38934372C>A	ENST00000216024.2	-	11	979	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C	DMC1_ENST00000428462.2_Missense_Mutation_p.G180C	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	235					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TCCCCACGGCCACTGAAATCC	0.383000								Homologous recombination					15	45					6.31663e-08	6.40929e-08	1	1	0
HECW1	23072	broad.mit.edu	37	7	43351456	43351456	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:43351456A>G	ENST00000395891.1	+	4	727	c.122A>G	c.(121-123)tAc>tGc	p.Y41C	HECW1_ENST00000453890.1_Missense_Mutation_p.Y41C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	41					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCGCTCCGATACAGCTACAAC	0.617000													4	59					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529798	80529798	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:80529798C>T	ENST00000295057.3	-	2	1803	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	LRRTM1_ENST00000409148.1_Missense_Mutation_p.D383N|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	383						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGCCCCAGATCACTGCGGTTG	0.726000										HNSCC(69;0.2)			7	27					0	0	1	0	0
PIGV	55650	broad.mit.edu	37	1	27120996	27120996	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:27120996C>T	ENST00000374145.1	+	3	1153	c.471C>T	c.(469-471)ctC>ctT	p.L157L	PIGV_ENST00000078527.4_Silent_p.L157L|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	157					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTTTCTGTCTCAGCCCTGCCA	0.532000													14	52					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820223	55820223	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:55820223G>A	ENST00000328314.3	+	1	186	c.186G>A	c.(184-186)agG>agA	p.R62R		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTCCTCAGGAATTTCTCCT	0.393000													10	105					0	0	1	0	0
JADE2	23338	broad.mit.edu	37	5	133914780	133914780	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:133914780G>T	ENST00000395003.1	+	11	2325	c.2146G>T	c.(2146-2148)Gta>Tta	p.V716L	PHF15_ENST00000361895.2_Missense_Mutation_p.V717L|PHF15_ENST00000282605.4_Missense_Mutation_p.V760L|PHF15_ENST00000402835.1_3'UTR	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		716	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGAGCAAGGTAACCCGGAG	0.632000													11	79					5.50884e-06	5.57602e-06	1	1	0
SLC4A10	57282	broad.mit.edu	37	2	162696385	162696385	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:162696385G>A	ENST00000375514.5	+	5	684	c.397G>A	c.(397-399)Gat>Aat	p.D133N	SLC4A10_ENST00000446997.1_Missense_Mutation_p.D122N|SLC4A10_ENST00000535165.1_Missense_Mutation_p.D122N|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.D122N|SLC4A10_ENST00000421911.1_Missense_Mutation_p.D122N|SLC4A10_ENST00000272716.5_Missense_Mutation_p.D122N	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	122					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACAGAACTGGATGAGATTTG	0.438000													11	73					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326575	57326575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:57326575G>A	ENST00000326441.9	-	10	3598	c.3235C>T	c.(3235-3237)Cat>Tat	p.H1079Y	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.H953Y|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.H1079Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H955Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1079					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTGACCATGGGTCTCCTCG	0.493000													8	84					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156876099	156876099	+	Silent	SNP	T	T	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:156876099T>A	ENST00000338302.3	+	6	564	c.339T>A	c.(337-339)cgT>cgA	p.R113R	PEAR1_ENST00000292357.7_Silent_p.R113R			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	113	EGF-like 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCATGGCCGTTGTGTGGCAC	0.617000													10	59					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93723839	93723839	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:93723839C>T	ENST00000265990.6	+	13	1718	c.1410C>T	c.(1408-1410)ccC>ccT	p.P470P	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	470					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TATAGGTGCCCTTCATTATAA	0.363000													10	61					0	0	1	0	0
TRAJ27	28728	broad.mit.edu	37	14	22985275	22985275	+	RNA	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:22985275C>T	ENST00000390510.1	+	0	25																											GCAAATCAACCTTTGGGGATG	0.453000													17	146					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29993025	29993025	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:29993025C>T	ENST00000308893.4	+	9	1742	c.699C>T	c.(697-699)gcC>gcT	p.A233A	TAOK2_ENST00000279394.3_Silent_p.A233A|TAOK2_ENST00000416441.2_Silent_p.A60A|TAOK2_ENST00000543033.1_Silent_p.A233A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	233	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CGATGAGTGCCTTATACCACA	0.527000													4	56					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303844	151303844	+	Silent	SNP	A	A	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:151303844A>C	ENST00000370323.4	-	4	565	c.249T>G	c.(247-249)ccT>ccG	p.P83P	MAGEA10_ENST00000244096.3_Silent_p.P83P|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	83										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CACTCTGGGGAGGATTTGGTG	0.547000													28	176					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798162	21798162	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:21798162C>T	ENST00000318220.6	+	8	1427	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	NBPF3_ENST00000342104.5_Missense_Mutation_p.L183F|NBPF3_ENST00000318249.5_Missense_Mutation_p.L183F|NBPF3_ENST00000454000.2_Missense_Mutation_p.L113F			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	183						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATCAGCATCTCCAGGCCCT	0.572000													12	88					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589854	26589854	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:26589854G>A	ENST00000376261.3	+	16	2225	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	GAD2_ENST00000259271.3_Silent_p.L574L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	574					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTGACTTCCTGATTGAAGAAA	0.443000													12	69					0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113742455	113742455	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:113742455C>T	ENST00000259205.4	+	5	408	c.339C>T	c.(337-339)ccC>ccT	p.P113P	IL36G_ENST00000376489.2_Silent_p.P78P	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	113					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.P113P(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AACCCGAGCCCGTGAAACCCT	0.502000													12	87					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476105	32476105	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:32476105G>A	ENST00000404025.2	-	5	1316	c.828C>T	c.(826-828)atC>atT	p.I276I	NLRC4_ENST00000402280.1_Silent_p.I276I|NLRC4_ENST00000360906.5_Silent_p.I276I|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	276	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAGTGGTGACGATGACCATGT	0.517000													15	109					0	0	1	0	0
ERAP2	64167	broad.mit.edu	37	5	96253237	96253237	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:96253237G>A	ENST00000437043.3	+	19	3522	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	ERAP2_ENST00000379904.4_Silent_p.T892T|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	937					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTGGAAACGATAACCAAAA	0.343000													7	37					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117158957	117158957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:117158957G>A	ENST00000369486.3	-	3	931	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	IGSF3_ENST00000369483.1_Nonsense_Mutation_p.Q56*|IGSF3_ENST00000318837.6_Nonsense_Mutation_p.Q56*	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	56	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGACCACTGGAAATTCTGC	0.577000													8	40					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711355	155711355	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:155711355C>T	ENST00000295101.2	+	3	1513	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	346					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTCCCAGTTCCATGCAACATT	0.418000													9	57					0	0	1	0	0
RNF150	57484	broad.mit.edu	37	4	141789475	141789475	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:141789475C>T	ENST00000306799.3	-	7	1784	c.1131G>A	c.(1129-1131)gaG>gaA	p.E377E	RNF150_ENST00000420921.2_Silent_p.E278E|RNF150_ENST00000379512.2_Silent_p.E278E|RNF150_ENST00000515673.1_Silent_p.E419E	NM_020724.1	NP_065775.1	Q9ULK6	RN150_HUMAN	ring finger protein 150	419						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					ACAGTCCAACCTCCATTGCCA	0.468000													4	47					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10080598	10080598	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:10080598C>T	ENST00000264828.3	-	55	4022	c.3936_splice	c.e55-1	p.G1313_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1313	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGAAGGACCCTTGGAAGGG	0.612000													8	65					0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31722561	31722561	+	Silent	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr13:31722561A>G	ENST00000320027.5	-	9	1538	c.1194T>C	c.(1192-1194)gtT>gtC	p.V398V	HSPH1_ENST00000380406.5_Silent_p.V357V|HSPH1_ENST00000445273.2_Silent_p.V400V|HSPH1_ENST00000380405.4_Silent_p.V398V|HSPH1_ENST00000429785.2_Silent_p.V217V	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	398					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TTGGAAAAGGAACTGCATCTG	0.333000													6	75					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811151	5811151	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:5811151C>T	ENST00000381095.3	-	6	2785	c.2158G>A	c.(2158-2160)Gat>Aat	p.D720N	NLGN4X_ENST00000381092.1_Missense_Mutation_p.D720N|NLGN4X_ENST00000275857.6_Missense_Mutation_p.D720N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D740N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D720N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	720					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGAGCGATATCATTTGTGGTG	0.522000													7	54					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158644202	158644202	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:158644202C>T	ENST00000368148.3	-	10	1447	c.1267G>A	c.(1267-1269)Gat>Aat	p.D423N	SPTA1_ENST00000368147.3_Missense_Mutation_p.D423N	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	423					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATCGGTCATCGTAAGAGTCA	0.453000													14	131					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121707234	121707234	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:121707234C>T	ENST00000273691.3	-	7	1594	c.1489G>A	c.(1489-1491)Gga>Aga	p.G497R	ILDR1_ENST00000462014.1_Missense_Mutation_p.G509R|ILDR1_ENST00000344209.5_Missense_Mutation_p.G541R|ILDR1_ENST00000393631.1_Missense_Mutation_p.G452R	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	541						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACACTCCTTCCACTATGAGAG	0.448000													10	69					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78338188	78338188	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:78338188G>A	ENST00000255189.3	-	7	1139	c.1111C>T	c.(1111-1113)Cct>Tct	p.P371S	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.P170S	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	371					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TACGTGATAGGACCATTGACA	0.453000													12	65					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843182	215843182	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:215843182C>T	ENST00000272895.7	-	33	5205	c.4986G>A	c.(4984-4986)ctG>ctA	p.L1662L	ABCA12_ENST00000389661.4_Silent_p.L1344L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1662					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGGTCAAGTTCAGAAAGACCT	0.358000													3	18					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78888995	78888995	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:78888995C>T	ENST00000326828.5	-	6	1853	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	CHRNA3_ENST00000348639.3_Intron	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	490					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGCTGTCCCTAGAATGCA	0.468000													6	36					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710036	41710036	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:41710036G>A	ENST00000400454.1	-	8	2252	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	592	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACCTTTCACGGTCACGTGGAC	0.507000													9	130					0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34551103	34551103	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:34551103G>A	ENST00000354181.3	-	5	946	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	SLC12A6_ENST00000397702.2_Missense_Mutation_p.R93C|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R137C|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R101C|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R13C|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R152C|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R93C|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R143C|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R152C|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R13C			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	152					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTGGCCATGCGGTTGAGGAGG	0.453000													12	75					0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162898386	162898386	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:162898386A>C	ENST00000416990.2	+	7	719	c.222A>C	c.(220-222)caA>caC	p.Q74H	HMMR_ENST00000353866.3_Missense_Mutation_p.Q173H|HMMR_ENST00000393915.4_Missense_Mutation_p.Q189H|HMMR_ENST00000358715.3_Missense_Mutation_p.Q188H|HMMR_ENST00000432118.2_Missense_Mutation_p.Q102H			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	188						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TGGCTAAGCAAGAAGGCATGG	0.468000													3	32					0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112686787	112686787	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:112686787T>A	ENST00000295408.4	+	2	409	c.152T>A	c.(151-153)tTa>tAa	p.L51*	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Nonsense_Mutation_p.L51*			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	51					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ACACCGCTGTTATCCCTTCCT	0.547000													7	45					0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143784537	143784537	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:143784537G>A	ENST00000292430.6	+	3	663	c.246G>A	c.(244-246)gcG>gcA	p.A82A	LY6K_ENST00000561179.1_Silent_p.A140A|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000519387.1_Intron|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	82	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		p.A140A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCATGGTTGCGAAGCAGTGCT	0.498000													4	28					0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48266136	48266136	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:48266136G>A	ENST00000296435.2	+	3	518	c.362G>A	c.(361-363)aGg>aAg	p.R121K	CAMP_ENST00000576243.1_Missense_Mutation_p.R118K	NM_004345.4	NP_004336.3	P49913	CAMP_HUMAN	cathelicidin antimicrobial peptide	118					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AACCAGGCCAGGGGCTCCTTT	0.537000													16	92					0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22974268	22974268	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:22974268C>T	ENST00000374639.3	+	3	848	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S	C1QC_ENST00000374637.1_Missense_Mutation_p.P244S|C1QC_ENST00000374640.4_Missense_Mutation_p.P244S	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	244	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTGCTCTTCCCCGACTAGGG	0.627000													4	51					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75471326	75471326	+	RNA	SNP	C	C	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:75471326C>G	ENST00000459803.1	-	0	1815					NR_024241.1																						CCCCAGGGCCCCTGCTGTCCT	0.597000													3	26					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	113002394	113002394	+	Silent	SNP	G	G	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:113002394G>C	ENST00000495514.1	+	16	3272	c.2568G>C	c.(2566-2568)ctG>ctC	p.L856L	BOC_ENST00000273395.4_Silent_p.L857L|BOC_ENST00000355385.3_Silent_p.L856L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	856					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGCCCTATCTGATTGTCGGGG	0.622000													22	97					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104140354	104140354	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:104140354C>T	ENST00000369983.3	+	38	5341	c.5081C>T	c.(5080-5082)cCc>cTc	p.P1694L		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1694					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGAGGCGGCCCCTCGGCCCTC	0.577000													43	316					0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97731240	97731240	+	RNA	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:97731240C>T	ENST00000472788.1	-	0	479					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ATGATATTCTCCATAGTTGTA	0.448000													6	39					0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128179007	128179007	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:128179007C>T	ENST00000453608.2	+	3	290	c.282C>T	c.(280-282)ttC>ttT	p.F94F	PROC_ENST00000422777.3_Silent_p.F73F|PROC_ENST00000234071.3_Silent_p.F73F|PROC_ENST00000409048.1_Silent_p.F73F			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	73					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGGAAATTTTCCAAAATGTGG	0.587000													3	30					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150842500	150842500	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:150842500C>T	ENST00000370357.4	+	15	2262	c.2017C>T	c.(2017-2019)Ccc>Tcc	p.P673S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	673						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGTTTCCCATAACTTC	0.488000													13	116					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:47599133C>T	ENST00000533290.1	-	1	1208	c.494G>A	c.(493-495)cGc>cAc	p.R165H	KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140	BACK.							p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517000													4	140					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13891128	13891128	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:13891128T>C	ENST00000265104.4	-	17	2638	c.2534A>G	c.(2533-2535)cAg>cGg	p.Q845R	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	845	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGGCTCCTCCTGGGGAAGCTG	0.413000									Kartagener syndrome				14	153					0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678271	65678271	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:65678271G>A	ENST00000352385.2	-	18	3287	c.3078C>T	c.(3076-3078)ccC>ccT	p.P1026P		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1026						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						ACCAGTCCTGGGGATGGGGGT	0.652000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	44					0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113059863	113059863	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:113059863C>T	ENST00000369684.4	+	4	1287	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	WNT2B_ENST00000256640.5_Missense_Mutation_p.R176C|WNT2B_ENST00000369686.4_Missense_Mutation_p.R249C	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	268					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	p.R268C(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGCGGCGACGCTATGATGG	0.607000													5	58					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72936121	72936121	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:72936121C>T	ENST00000261180.4	+	7	1734	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	546					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATTCAGTTTTCCAGAGGGGTT	0.308000													4	27					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	981877	981877	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:981877C>T	ENST00000379370.2	+	18	3062	c.3012C>T	c.(3010-3012)ctC>ctT	p.L1004L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1004	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGGCGCCCTCCCCCTGGCTC	0.711000													6	17					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230323	39230323	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:39230323G>A	ENST00000340369.3	-	2	842	c.614C>T	c.(613-615)tCc>tTc	p.S205F	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.S205F	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	205							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGAGGGGCGGGAGCCCAGGCG	0.622000													9	70					0	0	1	0	0
P2RY12	64805	broad.mit.edu	37	3	151055765	151055765	+	Missense_Mutation	SNP	T	T	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:151055765T>A	ENST00000302632.3	-	3	1168	c.869A>T	c.(868-870)aAt>aTt	p.N290I	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	290					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	CAGGCATGCATTTAAGGAAGT	0.433000													19	91					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039166	31039166	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:31039166C>T	ENST00000355537.3	+	4	2787	c.2640C>T	c.(2638-2640)gtC>gtT	p.V880V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CTTCGGAGGTCCCCTCAGATG	0.542000													15	102					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25766067	25766067	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:25766067A>T	ENST00000520164.1	-	7	1093	c.556T>A	c.(556-558)Ttt>Att	p.F186I	EBF2_ENST00000408929.3_Missense_Mutation_p.F38I	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	186					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AATTTTAAAAAGAATCTGTGA	0.373000													6	46					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10321968	10321968	+	Silent	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:10321968A>G	ENST00000403437.2	-	5	599	c.505T>C	c.(505-507)Ttg>Ctg	p.L169L	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	169	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCACCAGTCAACATGAACTGA	0.478000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	136					0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47374649	47374649	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:47374649C>T	ENST00000232766.5	+	5	623	c.603C>T	c.(601-603)gtC>gtT	p.V201V	KLHL18_ENST00000455924.2_Silent_p.V89V	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	201	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CATGACAGGTCTTTGAAGCTG	0.592000													22	98					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87487642	87487642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:87487642C>T	ENST00000327946.7	-	10	1588	c.1503G>A	c.(1501-1503)tgG>tgA	p.W501*	GRID1_ENST00000536331.1_Nonsense_Mutation_p.W72*	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	501						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.W501*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCATCCCGTTCCAGGAGGTGT	0.537000										Multiple Myeloma(13;0.14)			11	67					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24898472	24898472	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:24898472C>T	ENST00000382760.2	+	4	694	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	UPB1_ENST00000326010.5_Intron|UPB1_ENST00000413389.2_Intron			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	0	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					ttttgtaattccctccagctg	0.537000													17	153					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545691	82545691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:82545691G>A	ENST00000423517.2	-	7	11948	c.11611C>T	c.(11611-11613)Caa>Taa	p.Q3871*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.Q591*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.Q3871*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3802	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTTGGGTTTGTGGTGGTATA	0.478000													13	384					0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135593638	135593638	+	Silent	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:135593638T>C	ENST00000535601.1	+	10	2156	c.1734T>C	c.(1732-1734)ggT>ggC	p.G578G	HTATSF1_ENST00000218364.4_Silent_p.G578G	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	578	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACGAGGAAGGTTCTGAAAAGG	0.388000													8	87					0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	635648	635648	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:635648C>T	ENST00000264935.5	+	6	943	c.853C>T	c.(853-855)Cca>Tca	p.P285S	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	285					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGGAGCGGAGCCAGAGGCCTC	0.597000													7	73					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42509070	42509070	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:42509070G>A	ENST00000381668.5	-	23	2280	c.2049C>T	c.(2047-2049)atC>atT	p.I683I	ATP8A1_ENST00000264449.10_Silent_p.I668I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	683					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCCCTGTAAGGATCCAGATTT	0.378000													9	133					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78485862	78485862	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:78485862C>T	ENST00000258873.4	-	5	854	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	217					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGGATCTTTTCCAGCTGCTTC	0.582000													10	71					0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62984833	62984833	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:62984833G>A	ENST00000403374.2	-	5	588	c.285C>T	c.(283-285)ctC>ctT	p.L95L	SLC22A25_ENST00000306494.6_Silent_p.L261L|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron			Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	261					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TCACCAACTGGAGGATGCACT	0.438000													8	24					0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66631275	66631275	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:66631275G>A	ENST00000393960.1	-	12	1619	c.1338C>T	c.(1336-1338)gcC>gcT	p.A446A	PC_ENST00000355677.3_Silent_p.A446A|PC_ENST00000393955.2_Silent_p.A446A|PC_ENST00000393958.2_Silent_p.A446A|PC_ENST00000524491.1_Silent_p.A406A	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	446	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACTCCGCAAGGGCCCTGCTCA	0.662000													12	90					0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024221	71024221	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:71024221C>T	ENST00000344526.5	+	3	441	c.252C>T	c.(250-252)ttC>ttT	p.F84F	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Silent_p.F84F	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	84						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTGGATTCCCCTATGTCT	0.473000													15	190					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388012	48388012	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:48388012C>T	ENST00000224600.4	-	1	2979	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	956	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E956K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCCCCCAGCTCGGCAGAGGCA	0.632000													3	45					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157559173	157559173	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:157559173G>T	ENST00000271532.1	-	3	263	c.128C>A	c.(127-129)aCt>aAt	p.T43N		NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	43	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TCCATTGCAAGTCAGAGTCAC	0.478000													5	47					1	1	1	1	0
CCER1	196477	broad.mit.edu	37	12	91347581	91347581	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:91347581C>T	ENST00000358859.2	-	1	1372	c.939G>A	c.(937-939)gaG>gaA	p.E313E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		catcttcgacctcttcctcct	0.532000													8	60					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439501	150439501	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:150439501G>A	ENST00000358647.3	+	3	641	c.274G>A	c.(274-276)Gat>Aat	p.D92N	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCACAGGCCGATACCCAAGA	0.597000													5	54					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61842455	61842455	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:61842455A>T	ENST00000280772.1	-	34	4432	c.4241T>A	c.(4240-4242)tTt>tAt	p.F1414Y	ANK3_ENST00000503366.1_Missense_Mutation_p.F1415Y|ANK3_ENST00000355288.2_Missense_Mutation_p.F548Y|ANK3_ENST00000373827.2_Missense_Mutation_p.F1408Y	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1414					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTCAGAAAAGACAGACG	0.388000													14	90					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65253758	65253758	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:65253758C>T	ENST00000389722.3	-	15	2978	c.2925G>A	c.(2923-2925)aaG>aaA	p.K975K	SPTB_ENST00000389721.5_Silent_p.K975K|SPTB_ENST00000556626.1_Silent_p.K975K|SPTB_ENST00000389720.3_Silent_p.K975K|SPTB_ENST00000542895.1_Silent_p.K975K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	975					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTCCACTACCTTTGTCTTGT	0.607000													5	39					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539327	55539327	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:55539327G>A	ENST00000220676.1	+	4	3033	c.2885G>A	c.(2884-2886)gGa>gAa	p.G962E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	962					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAAATTCTGGAAAAATAAGT	0.313000													9	79					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7643749	7643749	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:7643749G>A	ENST00000572933.1	+	10	2848	c.1388G>A	c.(1387-1389)gGa>gAa	p.G463E	DNAH2_ENST00000570791.1_Missense_Mutation_p.G545E|DNAH2_ENST00000082259.3_Missense_Mutation_p.G545E|DNAH2_ENST00000389173.2_Missense_Mutation_p.G463E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	463	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCCGTGCCGGAATCAAGGAC	0.622000													18	136					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100173666	100173666	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:100173666A>G	ENST00000547776.2	-	6	829	c.830T>C	c.(829-831)aTt>aCt	p.I277T	ANKS1B_ENST00000329257.7_Missense_Mutation_p.I277T|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	277						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GAGTGTTGCAATCTGGAGAGA	0.343000													11	74					0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416405	153416405	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:153416405C>T	ENST00000369951.4	+	2	450	c.390C>T	c.(388-390)ggC>ggT	p.G130G	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	130					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTGGAGGGCTACACCGTCT	0.602000													13	92					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66641908	66641908	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:66641908C>T	ENST00000261233.4	+	12	2169	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F	IRAK3_ENST00000457197.2_Missense_Mutation_p.S522F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	583					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGCTGTTCCTCCAAATTTTCC	0.423000													8	84					0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220408029	220408029	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:220408029C>A	ENST00000243776.6	-	1	480	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	CHPF_ENST00000373891.2_Nonsense_Mutation_p.E78*	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	78						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCGGCGCCTTCGCCGGCCCCG	0.731000													3	27					1	1	1	1	0
FANCD2OS	115795	broad.mit.edu	37	3	10146064	10146064	+	Missense_Mutation	SNP	C	C	T	rs139498249		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:10146064C>T	ENST00000450660.2	-	2	611	c.395G>A	c.(394-396)aGg>aAg	p.R132K	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.R132K	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		CTGGTGCTCCCTGCTAATGAT	0.488000													19	113					0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145661735	145661735	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:145661735G>A	ENST00000409379.3	-	17	2110	c.2081C>T	c.(2080-2082)cCt>cTt	p.P694L	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	694					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGGGCTCAAAGGAGGAGAGGT	0.632000													11	108					0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85564319	85564319	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:85564319A>G	ENST00000294664.6	+	13	1637	c.1457A>G	c.(1456-1458)cAc>cGc	p.H486R	WDR63_ENST00000370596.1_Missense_Mutation_p.H447R|WDR63_ENST00000326813.8_Missense_Mutation_p.H447R	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	486										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ACAGATATACACTGGTTGTCT	0.353000													9	77					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12939520	12939520	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:12939520G>A	ENST00000218032.6	+	2	2448	c.2361G>A	c.(2359-2361)atG>atA	p.M787I	TLR8_ENST00000311912.5_Missense_Mutation_p.M805I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	787	LRRCT.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAAGATGGATGGATGAACATC	0.443000													9	65					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239895	126239895	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:126239895G>A	ENST00000394329.3	+	1	2342	c.2329G>A	c.(2329-2331)Gca>Aca	p.A777T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	777	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCCAACCAGGCAATAGTAAC	0.433000													5	73					0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55687185	55687185	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:55687185C>T	ENST00000354308.3	-	5	801	c.432G>A	c.(430-432)tcG>tcA	p.S144S	CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Silent_p.S141S|SYT5_ENST00000537500.1_Silent_p.S144S	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	144	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATAGGGGTCCGAGGAGCCAC	0.622000													7	81					0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62487585	62487585	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:62487585G>A	ENST00000301785.5	-	10	1882	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.P564S	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	564					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTCATTAGGGACAACCACC	0.468000													17	143					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10239579	10239579	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:10239579C>T	ENST00000377157.3	+	26	4144	c.3083C>T	c.(3082-3084)cCc>cTc	p.P1028L	UBE4B_ENST00000253251.8_Missense_Mutation_p.P1140L|UBE4B_ENST00000343090.6_Missense_Mutation_p.P1269L	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1269					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCCACGGACCCCTTCAACCGG	0.612000													5	97					0	0	1	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19362901	19362901	+	Missense_Mutation	SNP	C	C	T	rs141711370		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:19362901C>T	ENST00000454498.2	-	4	1458	c.445G>A	c.(445-447)Gat>Aat	p.D149N	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.D149N|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.D149N|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.D149N|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.D149N	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	149					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GTAAAGCTATCGAAAGGCACT	0.587000													5	68					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147193	77147193	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:77147193C>T	ENST00000461745.1	+	2	990	c.90C>T	c.(88-90)ccC>ccT	p.P30P	ROBO2_ENST00000332191.8_Silent_p.P30P|ROBO2_ENST00000487694.3_Silent_p.P46P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	30					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGACTTTCCCCCGCGGATTG	0.537000													4	22					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43771331	43771331	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:43771331C>T	ENST00000389420.3	-	32	4831	c.4832G>A	c.(4831-4833)aGg>aAg	p.R1611K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1611	TSP type-1 14.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATATGTAATCCTTTGTCTGTA	0.388000													3	18					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118583061	118583061	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:118583061C>T	ENST00000263239.2	+	10	1535	c.1407C>T	c.(1405-1407)ttC>ttT	p.F469F		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	469	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCACATTCTTCCAGTTCTGCA	0.433000													12	97					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33138364	33138364	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:33138364C>T	ENST00000341947.2	-	47	3725	c.3498G>A	c.(3496-3498)gaG>gaA	p.E1166E	COL11A2_ENST00000357486.1_Silent_p.E1145E|COL11A2_ENST00000374714.1_Silent_p.E1140E|COL11A2_ENST00000361917.1_Silent_p.E1059E|COL11A2_ENST00000374713.1_Silent_p.E1119E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Silent_p.E1106E|COL11A2_ENST00000374712.1_Silent_p.E1085E|COL11A2_ENST00000374708.4_Silent_p.E1080E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1166	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTTCTCCCTTCTCCCCAGAGG	0.607000													4	58					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67431911	67431911	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:67431911C>T	ENST00000478722.1	+	9	1953	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.P245S|GPHN_ENST00000305960.9_Missense_Mutation_p.P214S|GPHN_ENST00000543237.1_Missense_Mutation_p.P258S|GPHN_ENST00000459628.1_Missense_Mutation_p.P260S	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	245	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGTTCAGATTCCAGACTCCAT	0.463000			T	MLL	AL								8	69					0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728780	51728780	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:51728780C>T	ENST00000262262.4	+	2	365	c.344C>T	c.(343-345)tCa>tTa	p.S115L	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.S115L	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	115	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GATAATGGTTCATACTTCTTT	0.532000													10	70					0	0	1	0	0
OR1F1	4992	broad.mit.edu	37	16	3255030	3255030	+	Missense_Mutation	SNP	C	C	T	rs111369312		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:3255030C>T	ENST00000304646.2	+	1	784	c.784C>T	c.(784-786)Cct>Tct	p.P262S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GTATTTTAACCCTCTGTCCTC	0.493000													23	139					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10648027	10648027	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:10648027A>G	ENST00000547195.1	-	8	1081	c.581T>C	c.(580-582)aTt>aCt	p.I194T	MRVI1_ENST00000436272.1_Missense_Mutation_p.I258T|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000527509.2_Missense_Mutation_p.I194T|MRVI1_ENST00000423302.2_Missense_Mutation_p.I285T|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.I277T|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.I276T|MRVI1_ENST00000552103.1_Missense_Mutation_p.I194T	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	258					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTATTGCAATCTCTTTGGA	0.532000													6	21					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35014121	35014121	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:35014121A>C	ENST00000231420.6	-	10	1267	c.1067T>G	c.(1066-1068)tTt>tGt	p.F356C		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	356					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGCCATGGGAAAGCCATTCCC	0.522000													17	119					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647312	38647312	+	RNA	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:38647312G>A	ENST00000494540.1	+	0	183					NR_003086.1																						TGGCGTGCAGGAATATGAGCA	0.557000													3	22					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36869848	36869848	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:36869848G>A	ENST00000279024.4	-	3	956	c.685C>T	c.(685-687)Cct>Tct	p.P229S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	229										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTCTGGGCAGGAAGCACCTGG	0.597000													11	55					0	0	1	0	0
ICMT	23463	broad.mit.edu	37	1	6285225	6285225	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:6285225T>C	ENST00000343813.5	-	5	798	c.770A>G	c.(769-771)cAc>cGc	p.H257R		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	257					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TCCAAAAAAGTGAATTAGTGA	0.537000													8	117					0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756610	71756610	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:71756610G>A	ENST00000318442.5	-	2	1204	c.714C>T	c.(712-714)atC>atT	p.I238I		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGCTGTCATCGATCTGCACGT	0.632000													22	137					0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219855672	219855672	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:219855672G>A	ENST00000295728.2	-	3	584	c.348C>T	c.(346-348)ttC>ttT	p.F116F	CRYBA2_ENST00000487181.1_5'UTR|CRYBA2_ENST00000392096.2_Silent_p.F116F	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	116	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGCCTTGGAAGTTGTCCC	0.547000													14	78					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19763002	19763002	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:19763002G>A	ENST00000269216.3	+	6	1895	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	GATA6_ENST00000581694.1_Missense_Mutation_p.G540R	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	540					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			TACAGCCTCAGGGGTAAGTAT	0.373000													4	38					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227942690	227942690	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:227942690C>T	ENST00000396625.3	-	25	2114	c.1907G>A	c.(1906-1908)gGt>gAt	p.G636D	COL4A4_ENST00000329662.7_Missense_Mutation_p.G636D	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	636	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCTGGTGGACCAGGAAATCC	0.567000													5	27					0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79627472	79627472	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:79627472C>T	ENST00000263849.4	+	8	823	c.721C>T	c.(721-723)Cga>Tga	p.R241*		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	241																	TGTCAAACCCCGAAATTCCAC	0.363000													13	44					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348914	120348914	+	Silent	SNP	T	T	C	rs2298465		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:120348914T>C	ENST00000397843.2	+	37	3748	c.3582T>C	c.(3580-3582)tcT>tcC	p.S1194S	ARHGEF12_ENST00000356641.3_Silent_p.S1175S|ARHGEF12_ENST00000532993.1_Silent_p.S1091S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1194					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AACCTCAGTCTCATTCACTGA	0.393000			T	MLL	AML								4	35					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735396	54735396	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:54735396G>A	ENST00000306858.7	+	2	468	c.352G>A	c.(352-354)Ggc>Agc	p.G118S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	118										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTCTTAGGGGGCACCCATAT	0.433000													24	84					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447001	41447001	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:41447001C>T	ENST00000400454.1	-	27	5328	c.4851G>A	c.(4849-4851)cgG>cgA	p.R1617R		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1617					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCCGCCTCCTCCGCACAACCA	0.622000													4	33					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363518	56363518	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:56363518G>A	ENST00000301295.6	+	2	494	c.72G>A	c.(70-72)agG>agA	p.R24R	NLRP4_ENST00000346986.5_Silent_p.R24R	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	24	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGAGTTCAGGAAATTTAAAG	0.438000													11	130					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87235215	87235215	+	Missense_Mutation	SNP	T	T	C	rs149413280	byFrequency	TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:87235215T>C	ENST00000297524.3	-	2	906	c.803A>G	c.(802-804)gAa>gGa	p.E268G	SLC7A13_ENST00000419776.2_Missense_Mutation_p.E259G|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	268						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGAGAGAATTTCCCTGGGTGT	0.383000													10	111					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254209	1254209	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:1254209C>T	ENST00000348261.5	+	10	2450	c.2202C>T	c.(2200-2202)gtC>gtT	p.V734V	CACNA1H_ENST00000358590.4_Silent_p.V734V|CACNA1H_ENST00000565831.1_Silent_p.V734V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	734					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGCAGGACGTCCGGCACGGTG	0.701000													4	16					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67479753	67479753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:67479753C>T	ENST00000327367.4	+	8	1370	c.1060C>T	c.(1060-1062)Cag>Tag	p.Q354*	SMAD3_ENST00000537194.2_Nonsense_Mutation_p.Q159*|SMAD3_ENST00000439724.3_Nonsense_Mutation_p.Q310*|SMAD3_ENST00000540846.2_Nonsense_Mutation_p.Q249*	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	354	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCTCCTGGCCCAGTCGGTCAA	0.572000													8	69					0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059443	248059443	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:248059443C>T	ENST00000537741.1	+	3	812	c.555C>T	c.(553-555)atC>atT	p.I185I	OR2W3_ENST00000360358.3_Silent_p.I185I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGCCCTGATCCGGATGGCCT	0.622000													12	82					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254637	30254637	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:30254637C>T	ENST00000361644.2	+	5	1333	c.596C>T	c.(595-597)cCc>cTc	p.P199L	MAGEB3_ENST00000378986.1_Missense_Mutation_p.P199L	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	199	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AGGGGATTTCCCAAGACAGGT	0.468000													7	27					0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108600113	108600113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:108600113C>T	ENST00000332082.4	+	4	1248	c.430C>T	c.(430-432)Cga>Tga	p.R144*	WSCD2_ENST00000261400.3_Nonsense_Mutation_p.R144*|WSCD2_ENST00000549903.1_Nonsense_Mutation_p.R144*|WSCD2_ENST00000547525.1_Nonsense_Mutation_p.R144*			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	144	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TCGGGCCCTTCGAGGAGTGTC	0.522000													8	47					0	0	1	0	0
UGT1A5	54579	broad.mit.edu	37	2	234622108	234622108	+	Silent	SNP	C	C	T	rs146711966	byFrequency	TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:234622108C>T	ENST00000373414.3	+	1	471	c.471C>T	c.(469-471)tgC>tgT	p.C157C	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron	NM_019078.1	NP_061951.1														cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TTCACCTCTGCGCGGCGGTGC	0.488000													5	178					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756928	94756928	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:94756928C>T	ENST00000554723.1	-	2	541	c.123G>A	c.(121-123)atG>atA	p.M41I	SERPINA10_ENST00000261994.4_Start_Codon_SNP_p.M1I|SERPINA10_ENST00000554173.1_Start_Codon_SNP_p.M1I|SERPINA10_ENST00000393096.1_Start_Codon_SNP_p.M1I			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	1					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GCACCACCTTCATGTGATCGG	0.597000													3	25					0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31049305	31049305	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:31049305C>T	ENST00000394998.1	+	7	774	c.431C>T	c.(430-432)tCc>tTc	p.S144F	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Missense_Mutation_p.S146F	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	146					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						TCAATGCAGTCCGAATACCGG	0.557000													11	43					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42853729	42853729	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:42853729C>T	ENST00000334370.4	+	13	2811	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	MEGF8_ENST00000251268.6_Missense_Mutation_p.P793S	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	793						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGCCTCTTCCCTCTGCCTGG	0.652000													12	59					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122669236	122669236	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr12:122669236C>T	ENST00000339777.4	+	2	349	c.321C>T	c.(319-321)ttC>ttT	p.F107F	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	107										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AAGACAGTTTCCTGAGAGAAT	0.597000													4	43					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322936	5322936	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:5322936C>T	ENST00000380224.1	-	1	290	c.241G>A	c.(241-243)Ggt>Agt	p.G81S	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGGACACCCAGGACTGTG	0.507000													12	63					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44670118	44670118	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr20:44670118C>T	ENST00000454036.1	+	8	1150	c.1074C>T	c.(1072-1074)ttC>ttT	p.F358F	SLC12A5_ENST00000243964.3_Silent_p.F335F|SLC12A5_ENST00000539566.1_Intron	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	358					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGAATACTTCACCCGAAACA	0.577000													9	72					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467980	74467980	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:74467980G>A	ENST00000249842.3	+	2	1138	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	ISLR_ENST00000395118.1_Missense_Mutation_p.G261R|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	261	Ig-like.				cell adhesion	extracellular region		p.G261W(1)		central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGATGTGGACGGGCAGCCGGC	0.647000													14	78					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546500	2546500	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr16:2546500C>T	ENST00000567020.1	+	2	491	c.351C>T	c.(349-351)atC>atT	p.I117I	TBC1D24_ENST00000293970.5_Silent_p.I117I|TBC1D24_ENST00000434757.2_Silent_p.I117I|RP11-20I23.1_ENST00000564543.1_Silent_p.I117I	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	117	Rab-GAP TBC.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TGCGCAAGATCCTCCTGTGCC	0.677000													8	66					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932731	49932731	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:49932731G>A	ENST00000296474.3	-	14	3167	c.3140C>T	c.(3139-3141)tCc>tTc	p.S1047F	MST1R_ENST00000344206.4_Missense_Mutation_p.S998F	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1047					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGCACACAGGATTCATCTTC	0.557000													26	105					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26407991	26407991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:26407991C>T	ENST00000289361.6	+	4	894	c.526C>T	c.(526-528)Caa>Taa	p.Q176*	BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000425234.2_Nonsense_Mutation_p.Q176*|BTN3A1_ENST00000476549.2_Nonsense_Mutation_p.Q176*	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	176	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCCCCAACCCCAAATACAGTG	0.537000													22	58					0	0	1	0	0
OR1M1	125963	broad.mit.edu	37	19	9204238	9204238	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr19:9204238C>T	ENST00000429566.3	+	1	384	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCTTCCATTTCTTTGGCATCG	0.537000													6	45					0	0	1	0	0
SSR1	6745	broad.mit.edu	37	6	7310170	7310170	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:7310170C>T	ENST00000244763.4	-	2	258	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	SSR1_ENST00000534851.1_Missense_Mutation_p.E58K|SSR1_ENST00000397511.2_Missense_Mutation_p.E58K|SSR1_ENST00000474597.1_Missense_Mutation_p.E58K|SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000479365.1_Missense_Mutation_p.E58K|SSR1_ENST00000489567.1_Missense_Mutation_p.E58K|SSR1_ENST00000462112.1_Missense_Mutation_p.E58K	NM_003144.3	NP_003135.2	P43307	SSRA_HUMAN	signal sequence receptor, alpha	58					cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1)	9	Ovarian(93;0.0398)					GGTTCATCTTCTTCTACCTCG	0.343000													19	77					0	0	1	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085163	153085163	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:153085163G>A	ENST00000468739.1	-	2	107	c.47C>T	c.(46-48)cCt>cTt	p.P16L	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	16					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGCACACAGGAGGTGGCTG	0.577000													10	143					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669529	80669529	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:80669529C>T	ENST00000557010.1	-	4	710	c.325G>A	c.(325-327)Gga>Aga	p.G109R	DIO2_ENST00000555750.1_Missense_Mutation_p.G145R|DIO2_ENST00000422005.3_Missense_Mutation_p.G109R|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.G109R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	109					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CATGTGGCTCCCTCAGCTATC	0.557000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0	0	1	0	0
MIR587	693172	broad.mit.edu	37	6	107232089	107232089	+	RNA	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:107232089C>T	ENST00000384845.1	+	0	90					NR_030314.1																						gaaagcccatcccatatccca	0.547000													4	35					0	0	1	0	0
MYCT1	80177	broad.mit.edu	37	6	153043126	153043126	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:153043126C>T	ENST00000367245.5	+	2	454	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	149						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		CGACAAGCTTCCCTGGAACAA	0.498000													9	84					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41447002	41447002	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr21:41447002C>T	ENST00000400454.1	-	27	5327	c.4850G>A	c.(4849-4851)cGg>cAg	p.R1617Q		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1617					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCGCCTCCTCCGCACAACCAG	0.622000													4	35					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72431560	72431560	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:72431560G>A	ENST00000553530.1	+	2	259	c.52G>A	c.(52-54)Gag>Aag	p.E18K	RGS6_ENST00000406236.4_Missense_Mutation_p.E18K|RGS6_ENST00000556437.1_Missense_Mutation_p.E18K|RGS6_ENST00000402788.2_Missense_Mutation_p.E18K|RGS6_ENST00000355512.6_Missense_Mutation_p.E18K|RGS6_ENST00000553525.1_Missense_Mutation_p.E18K|RGS6_ENST00000555571.1_Missense_Mutation_p.E18K|RGS6_ENST00000343854.6_Missense_Mutation_p.E18K|RGS6_ENST00000407322.4_Missense_Mutation_p.E18K|RGS6_ENST00000404301.2_Missense_Mutation_p.E18K	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	18					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TGACCCAGAGGAGAGTTCTCC	0.493000													8	62					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126783338	126783338	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:126783338C>T	ENST00000274473.6	+	22	3085	c.2818C>T	c.(2818-2820)Cct>Tct	p.P940S	MEGF10_ENST00000503335.2_Missense_Mutation_p.P940S|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	940					cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCCACATCCCCTCACGTCAA	0.527000													9	59					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322867	55322867	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:55322867C>T	ENST00000314644.2	+	1	1085	c.1085C>T	c.(1084-1086)tCt>tTt	p.S362F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						ATGGTGGTTTCTGATGAGAAA	0.313000										HNSCC(20;0.049)			12	29					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690828	38690828	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:38690828G>A	ENST00000449981.2	+	2	352	c.243G>A	c.(241-243)ctG>ctA	p.L81L						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGCGGATCTGAATAGAGTTC	0.522000													16	54					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135920326	135920326	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:135920326G>A	ENST00000264158.8	+	21	2438	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K	RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E799K|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E755K|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	799						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGAAAGTCTCGAAAACATTTC	0.303000													11	54					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													6	104					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976644	55976644	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr4:55976644C>T	ENST00000263923.4	-	9	1476	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	394	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGTAATTTCCTGTGTCTCT	0.413000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			8	65					0	0	1	0	0
TCF23	150921	broad.mit.edu	37	2	27373233	27373233	+	Splice_Site	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr2:27373233G>A	ENST00000296096.5	+	2	595	c.465_splice	c.e2+1	p.K155_splice		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	155					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCTCTCAAGGTAAGTCACA	0.622000													22	201					0	0	1	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845446	106845446	+	RNA	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr14:106845446C>T	ENST00000390617.2	-	0	242																											CATAGTGCGTCCTACTGCCAT	0.527000													24	176					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720835	95720835	+	RNA	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:95720835C>T	ENST00000480546.1	-	0	462					NR_002319.2																						TACAAGTAATCATCGGGCCGG	0.502000													9	74					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174357	150174357	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:150174357C>T	ENST00000307271.3	+	5	2061	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	496						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.S496F(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GACACTCCTTCCTTCAACCAG	0.562000													7	43					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983156	97983156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:97983156C>T	ENST00000383696.2	+	1	69	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTTCATTTTTCAGAGGACATG	0.383000													6	72					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47086948	47086948	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:47086948G>A	ENST00000374312.1	+	3	584	c.165G>A	c.(163-165)ggG>ggA	p.G55G	NPY4R_ENST00000395716.1_Silent_p.G55G	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		CTGTCGTGGGGGTCCTGGGTA	0.542000													6	143					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914599	54914599	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:54914599C>T	ENST00000545554.1	+	30	6181	c.6181C>T	c.(6181-6183)Cat>Tat	p.H2061Y	UNC13C_ENST00000537900.1_Missense_Mutation_p.H2059Y|UNC13C_ENST00000260323.11_Missense_Mutation_p.H2061Y|UNC13C_ENST00000539562.2_5'UTR			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2061	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AACGGGAGATCATAAAGTCAC	0.438000													8	75					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592675	156592675	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:156592675C>T	ENST00000302938.4	-	1	600	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	169						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAAGTTTTTCCCAATAGCAA	0.498000													18	134					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672517	141672517	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:141672517G>A	ENST00000547270.1	-	1	1056	c.973C>T	c.(973-975)Cac>Tac	p.H325Y		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	325					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TCTGCCTTGTGGTCGGCTCTT	0.502000													5	59					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46287928	46287928	+	Silent	SNP	C	C	T	rs139271263		TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr18:46287928C>T	ENST00000256413.3	+	9	1534	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	CTIF_ENST00000382998.4_Silent_p.I415I	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	413	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						TGGGCGAGATCGTGCGCACAA	0.597000													4	52					0	0	1	0	0
PMM1	5372	broad.mit.edu	37	22	41973927	41973927	+	Splice_Site	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr22:41973927C>T	ENST00000216259.7	-	7	635	c.550_splice	c.e7-1	p.G184_splice		NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	184					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						GATCATGCCTCCTGTGGGCAG	0.562000													25	42					0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537108	5537108	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:5537108C>T	ENST00000380184.1	-	1	827	c.564G>A	c.(562-564)atG>atA	p.M188I	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	188										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		ACATGAACTCCATGTTGGACA	0.478000													12	90					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255781	15255781	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr10:15255781G>A	ENST00000378116.4	-	8	1812	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	602						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CAGCCGGGACGACGAGGGGCT	0.567000													5	76					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141754683	141754683	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:141754683C>T	ENST00000475668.2	+	27	3343	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1097C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1097	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R1097C(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTGAAATTCGCCGGAAGAG	0.498000													8	56					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53842755	53842755	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr3:53842755C>T	ENST00000288139.3	+	47	6007	c.5889C>T	c.(5887-5889)ttC>ttT	p.F1963F	CACNA1D_ENST00000422281.2_Silent_p.F1919F|CACNA1D_ENST00000350061.5_Silent_p.F1943F|CACNA1D_ENST00000544977.1_Silent_p.F322F	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1943					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTCCCATCTTCCCCCATCGCA	0.637000													14	65					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35549193	35549193	+	Silent	SNP	T	T	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr17:35549193T>C	ENST00000353139.5	-	37	4735	c.4254A>G	c.(4252-4254)ttA>ttG	p.L1418L	ACACA_ENST00000335166.5_Silent_p.L1303L|ACACA_ENST00000360679.3_Silent_p.L1323L|ACACA_ENST00000394406.2_Silent_p.L1381L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1381					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTTCAGCTCTAACTGGAAAG	0.478000													3	42					0	0	1	0	0
GNA12	2768	broad.mit.edu	37	7	2771220	2771220	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:2771220G>A	ENST00000275364.3	-	4	903	c.741C>T	c.(739-741)tcC>tcT	p.S247S	GNA12_ENST00000491117.1_5'UTR|GNA12_ENST00000544127.1_Silent_p.S154S|GNA12_ENST00000396960.3_Silent_p.S99S|GNA12_ENST00000407653.1_Silent_p.S171S|AMZ1_ENST00000489665.1_Intron|GNA12_ENST00000407904.3_Silent_p.S188S	NM_007353.2	NP_031379.2	Q03113	GNA12_HUMAN	guanine nucleotide binding protein (G protein) alpha 12	247					G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		TGAACAGGATGGACGTGATCC	0.567000													13	69					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502486	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr5:140502486G>A	ENST00000194152.1	+	1	906	c.906G>A	c.(904-906)ttG>ttA	p.L302L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAAT	0.368000													12	145					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34658540	34658540	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr9:34658540C>T	ENST00000555003.1	+	8	2026	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	IL11RA_ENST00000378817.4_Silent_p.L224L|IL11RA_ENST00000441545.2_Silent_p.L224L|IL11RA_ENST00000318041.9_Silent_p.L224L|IL11RA_ENST00000602473.1_Silent_p.L224L			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	224	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	ACCCCAGGGCCTGCGGGTAGA	0.612000													7	51					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248569574	248569574	+	Silent	SNP	G	G	A	rs139879826	by1000genomes	TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:248569574G>A	ENST00000366474.1	+	1	279	c.279G>A	c.(277-279)ggG>ggA	p.G93G		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGCCAATGGGGTTATGATCT	0.433000													6	106					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371157	129371157	+	Silent	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr6:129371157G>A	ENST00000421865.2	+	2	256	c.207G>A	c.(205-207)ttG>ttA	p.L69L		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	69	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGCAAATTGGTAGAACATG	0.443000													3	55					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163900	150163900	+	Silent	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:150163900C>T	ENST00000307271.3	+	2	688	c.114C>T	c.(112-114)tcC>tcT	p.S38S		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	38						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTTCAAGTCCAAGTTCAGTG	0.507000													14	111					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004287	75004287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:75004287C>T	ENST00000373359.2	-	1	792	c.600G>A	c.(598-600)tgG>tgA	p.W200*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	200	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512000													9	63					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535878	145535878	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:145535878C>T	ENST00000528838.1	+	9	1250	c.1090C>T	c.(1090-1092)Ccc>Tcc	p.P364S	HSF1_ENST00000400780.4_Missense_Mutation_p.P299S	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	364						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GCCTCCCTCCCCCCCGCCCAC	0.706000													3	14					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139601575	139601575	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:139601575G>A	ENST00000303045.6	-	65	5248	c.4802C>T	c.(4801-4803)cCc>cTc	p.P1601L	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1581L|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1601	Collagen-like 16.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTGGCCTGGGGGACCGGGAGG	0.617000										HNSCC(7;0.00092)			5	30					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10683697	10683697	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr8:10683697G>A	ENST00000554914.1	-	5	449	c.359C>T	c.(358-360)tCc>tTc	p.S120F	PINX1_ENST00000519088.1_Missense_Mutation_p.S120F|SOX7_ENST00000553390.1_Missense_Mutation_p.S120F|PINX1_ENST00000314787.3_Missense_Mutation_p.S120F|PINX1_ENST00000426190.2_Missense_Mutation_p.S118F			Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	66					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ACGGTTTTTGGAGATTTTGGA	0.318000													5	15					0	0	1	0	0
NADK	65220	broad.mit.edu	37	1	1688587	1688588	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr1:1688587_1688588insC	ENST00000344463.4	-	6	958_959	c.737_738insG	c.(736-738)ggcfs	p.G246fs	NADK_ENST00000378625.1_Frame_Shift_Ins_p.G246fs|NADK_ENST00000492768.1_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTCCATGTGCACCCCAGGCCCC	0.634													5	4	---	---	---	---					
DPY19L2P2	349152	broad.mit.edu	37	7	102883497	102883498	+	RNA	INS	-	-	A			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr7:102883497_102883498insA	ENST00000312132.4	-	0	2616																											AGTACCACTGTAAAAAAAAAAA	0.287													4	8	---	---	---	---					
ARHGEF17	9828	broad.mit.edu	37	11	73019753	73019753	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr11:73019753delG	ENST00000263674.3	+	1	420	c.70delG	c.(70-72)gcfs	p.G25fs	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	25					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCGCTGGAGCGGCGGCCCCGG	0.751													2	4	---	---	---	---					
NEO1	4756	broad.mit.edu	37	15	73345062	73345062	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chr15:73345062delT	ENST00000339362.5	+	2	493	c.46delT	c.(46-48)tcfs	p.F16fs	NEO1_ENST00000261908.6_Frame_Shift_Del_p.F16fs|NEO1_ENST00000558964.1_Frame_Shift_Del_p.F16fs|NEO1_ENST00000560262.1_Frame_Shift_Del_p.F16fs			Q92859	NEO1_HUMAN	neogenin 1	16					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CACCCCCTCCTTCTGGCTCTA	0.781													2	4	---	---	---	---					
XX-FW80269A6.1	0	broad.mit.edu	37	X	150684177	150684178	+	RNA	INS	-	-	T			TCGA-EB-A5SG-06A-11D-A30X-08	TCGA-EB-A5SG-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c07fdb-585f-4275-9f26-036514937bc4	250a37c2-91c4-4950-aae3-b699ee7d884e	g.chrX:150684177_150684178insT	ENST00000454307.1	+	0	130																											CAGGCTCCTCCTTGTCTTCCCC	0.599													2	4	---	---	---	---