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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
CYP27C1	339761	broad.mit.edu	37	2	127950676	127950676	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:127950676C>T	uc002tod.2	-	6	1127	c.996G>A	c.(994-996)gtG>gtA	p.V332V	CYP27C1_uc021vnn.1_Silent_p.V332V	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	332						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.V332M(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTACCTGGATCACGACGAGGT	0.512000														19			17		0	0	0.000958276	0	0
ODF2L	57489	broad.mit.edu	37	1	86818611	86818611	+	Silent	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:86818611T>G	uc001dll.2	-	16	2186	c.1824A>C	c.(1822-1824)atA>atC	p.I608I	ODF2L_uc001dlp.3_Silent_p.I555I|ODF2L_uc010osg.2_Silent_p.I526I|ODF2L_uc001dlm.2_Silent_p.I592I	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	608						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CCAGATCTAATATTTTAATTT	0.274000														11			15		0	0	0.000219431	0	0
FOXG1	2290	broad.mit.edu	37	14	29237249	29237249	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:29237249G>A	uc001wqe.3	+	0	963	c.764G>A	c.(763-765)tGg>tAg	p.W255*		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	255					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGCAACTACTGGATGCTGGAC	0.657000														24			11		0	0	0.000978159	0	0
SCTR	6344	broad.mit.edu	37	2	120223413	120223413	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:120223413G>A	uc002tma.3	-	4	681	c.455C>T	c.(454-456)tCc>tTc	p.S152F	SCTR_uc002tlz.3_Intron	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	152					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACCAGGGAGGAGCTGTAGCC	0.612000														42			18		0	0	0.00074312	0	0
FAM83B	222584	broad.mit.edu	37	6	54792370	54792370	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:54792370G>A	uc003pck.3	+	3	790	c.674G>A	c.(673-675)gGa>gAa	p.G225E		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	225										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)					AAATTCCATGGAAAAATGGAA	0.333000														46			18		0	0	0.000295444	0	0
HDLBP	3069	broad.mit.edu	37	2	242206277	242206277	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:242206277G>A	uc002waz.3	-	2	181	c.8C>T	c.(7-9)tCc>tTc	p.S3F	HDLBP_uc002wba.3_Missense_Mutation_p.S3F|HDLBP_uc021vzg.1_Missense_Mutation_p.S39F|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	3					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		AACTGCAACGGAACTCATGGT	0.433000														97			56		0	0	0.000781405	0	0
FUT10	84750	broad.mit.edu	37	8	33230301	33230301	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:33230301C>T	uc011lbi.2	-	4	1550	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	FUT10_uc003xjc.3_Missense_Mutation_p.E419K|FUT10_uc003xjd.3_Missense_Mutation_p.E384K|FUT10_uc003xje.3_Missense_Mutation_p.E412K			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	412					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCTTCTGCCTCCCATCTTTTG	0.453000														14			16		0	0	0.000566183	0	0
TRDN	10345	broad.mit.edu	37	6	123673700	123673700	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:123673700G>A	uc003pzj.2	-	20	1671	c.1353C>T	c.(1351-1353)acC>acT	p.T451T	TRDN_uc003pzk.2_Silent_p.T452T|TRDN_uc010kem.2_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	451					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCACTGTCTTGGTTGTTTTCT	0.398000														0			6		0	0	0.000157383	0	0
TAF1C	9013	broad.mit.edu	37	16	84215594	84215594	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:84215594G>A	uc002fhn.3	-	7	1034	c.792C>T	c.(790-792)ctC>ctT	p.L264L	TAF1C_uc010vnz.2_5'UTR|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_5'UTR|TAF1C_uc002fhm.3_Silent_p.L197L|TAF1C_uc010vnx.2_Silent_p.L264L|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_Silent_p.L264L	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	264					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CAGGTCCCTGGAGCTGGATGC	0.557000														13			35		0	0	0.00170553	0	0
ITGA4	3676	broad.mit.edu	37	2	182359477	182359477	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:182359477C>T	uc002unu.3	+	11	2040	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	426					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATCAGCAAATCGTTAAGTATG	0.308000														33			25		0	0	0.00127121	0	0
USF1	7391	broad.mit.edu	37	1	161010635	161010635	+	Silent	SNP	C	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:161010635C>G	uc001fxi.3	-	7	783	c.588G>C	c.(586-588)cgG>cgC	p.R196R	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Silent_p.R137R	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	196					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R196L(1)		central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTTTCTCATCCCGAGTCGTCC	0.502000														91			32		0	0	0.00111076	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757303	56757303	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56757303G>A	uc010rjp.2	+	0	915	c.915G>A	c.(913-915)ggG>ggA	p.G305G		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						AAGTGATAGGGAAAAAGTTAT	0.303000														18			7		0	0	8.12818e-05	0	0
LILRB4	11006	broad.mit.edu	37	19	55179098	55179098	+	Missense_Mutation	SNP	G	A	A	rs146325339	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:55179098G>A	uc002qgp.3	+	10	1416	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N	LILRB4_uc002qgq.3_Missense_Mutation_p.D351N|LILRB4_uc010ert.3_Missense_Mutation_p.D393N|LILRB4_uc010eru.3_Missense_Mutation_p.D382N	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	352						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCCACACGATGAAGACCC	0.567000														14			13		0	0	0.000422831	0	0
DYSF	8291	broad.mit.edu	37	2	71892337	71892338	+	Missense_Mutation	DNP	CC	TT	TT	rs11558178		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:71892337_71892338CC>TT	uc010fen.3	+	46	5361_5362	c.5220_5221CC>TT	c.(5218-5223)ctcctc>ctTTtc	p.L1741F	DYSF_uc010fei.3_Missense_Mutation_p.L1719F|DYSF_uc010feh.3_Missense_Mutation_p.L1709F|DYSF_uc002sig.4_Missense_Mutation_p.L1688F|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.L1733F|DYSF_uc010fee.3_Missense_Mutation_p.L1723F|DYSF_uc010fef.3_Missense_Mutation_p.L1740F|DYSF_uc002sie.3_Missense_Mutation_p.L1702F|DYSF_uc010feo.3_Missense_Mutation_p.L1734F|DYSF_uc010fej.3_Missense_Mutation_p.L1710F|DYSF_uc010fel.3_Missense_Mutation_p.L1689F|DYSF_uc010fem.3_Missense_Mutation_p.L1724F|DYSF_uc002sif.3_Missense_Mutation_p.L1703F|DYSF_uc010fek.3_Missense_Mutation_p.L1720F|DYSF_uc010yqy.2_Missense_Mutation_p.L583F|DYSF_uc010yqz.2_Missense_Mutation_p.L463F	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1702						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCCAGCTCCTCCACCTCTT	0.525000														50			30		0	0	6.4e-05	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480236	140480236	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140480236G>A	uc003lio.3	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	1					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAAGTGCAATGGAGGCGGGAG	0.527000														42			25		0	0	0.00127121	0	0
SCN1A	6323	broad.mit.edu	37	2	166897912	166897913	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:166897912_166897913CC>AA	uc002udo.4	-	14	2470_2471	c.2243_2244GG>TT	c.(2242-2244)tgg>tTT	p.W748F	SCN1A_uc010fpk.3_Missense_Mutation_p.W720F|SCN1A_uc021vsb.1_Missense_Mutation_p.W737F	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	748						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GAGAACAGTCCCAGATTAAGAA	0.366000														105			7		0	0	6.4e-05	0	0
CFB	629	broad.mit.edu	37	6	31918441	31918442	+	Missense_Mutation	DNP	CC	AA	AA	rs1803304		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:31918441_31918442CC>AA	uc003nyj.4	+	12	1948_1949	c.1670_1671CC>AA	c.(1669-1671)ccc>cAA	p.P557Q	CFB_uc011dor.2_Missense_Mutation_p.P1059Q	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	557	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTATTTCACCCCAACTACAACA	0.470000														470			18		0	0	6.4e-05	0	0
MIB1	57534	broad.mit.edu	37	18	19399522	19399522	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:19399522C>T	uc002ktq.3	+	11	1744	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	MIB1_uc002ktp.3_Missense_Mutation_p.L221F	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	582					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CCTAGCAGTTCTTTTGGAAGC	0.383000														86			36		0	0	0.00111076	0	0
GBE1	2632	broad.mit.edu	37	3	81699050	81699050	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:81699050C>T	uc021xav.1	-	3	734	c.452G>A	c.(451-453)gGa>gAa	p.G151E	GBE1_uc021xax.1_Missense_Mutation_p.G110E	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	151					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAAGATCTCTCCGCTTTTACT	0.363000									Glycogen Storage Disease, type IV					15			22		0	0	0.000295444	0	0
CSMD1	64478	broad.mit.edu	37	8	3046477	3046477	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:3046477G>A	uc022aqr.1	-	34	5845	c.5455C>T	c.(5455-5457)Cct>Tct	p.P1819S	CSMD1_uc011kwj.2_Missense_Mutation_p.P1212S|CSMD1_uc003wqe.3_Missense_Mutation_p.P976S|CSMD1_uc010lrg.3_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1820	CUB 11.					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)		TATGGCTCAGGGTAGCCGGGG	0.473000														11			10		0	0	0.000442599	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646597	4646597	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:4646597G>A	uc002fyu.2	+	5	1175	c.1145_splice	c.e5-1	p.E382_splice	ZMYND15_uc002fyv.2_Splice_Site_p.E382_splice|ZMYND15_uc002fyt.2_Splice_Site_p.E382_splice	NM_001136046	NP_001129518	Q9H091	ZMY15_HUMAN	Homo sapiens zinc finger, MYND-type containing 15 (ZMYND15), transcript variant 1, mRNA.	382							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						TCCTTCTCCAGAGGTGACCAG	0.542000														75			57		0	0	0.000781405	0	0
GBP4	115361	broad.mit.edu	37	1	89655736	89655736	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:89655736G>A	uc001dnb.3	-	6	1298	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	394						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTTCTTCTGGAATTCATGGT	0.478000														33			18		0	0	0.000295444	0	0
SPG21	51324	broad.mit.edu	37	15	65262497	65262498	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:65262497_65262498CG>AT	uc002aod.3	-	5	608_609	c.515_516CG>AT	c.(514-516)ccg>cAT	p.P172H	SPG21_uc002aoe.3_Missense_Mutation_p.P172H|SPG21_uc010bhb.3_Missense_Mutation_p.P145H	NM_001127889	NP_057714	Q9NZD8	SPG21_HUMAN	Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA.	172					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	p.P172Q(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TAGGGTCCACCGGGCCAGATGA	0.396000														324			9		0	0	6.4e-05	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31982865	31982865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:31982865G>A	uc010gek.3	-	2	486	c.362C>T	c.(361-363)tCc>tTc	p.S121F	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.S31F|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.S121F|CDK5RAP1_uc002wza.3_Missense_Mutation_p.S121F|CDK5RAP1_uc010gel.3_Missense_Mutation_p.S31F|CDK5RAP1_uc010gem.3_Missense_Mutation_p.S121F|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.S121F|CDK5RAP1_uc010gen.3_Missense_Mutation_p.S121F	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	121	CDK5 activation inhibition.|MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGTAAGATGGACCAGGCTAT	0.493000														79			54		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229941	140229941	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140229941C>T	uc003lhu.2	+	0	2585	c.1861C>T	c.(1861-1863)Ccg>Tcg	p.P621S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.P621S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCATCCCGTTCCGCGT	0.662000														25			30		0	0	0.00058488	0	0
MAK	4117	broad.mit.edu	37	6	10784762	10784762	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:10784762C>T	uc021ylk.1	-	10	1642	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.E454K|MAK_uc021yll.1_Missense_Mutation_p.E454K	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	454					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				CTCTTGTTTTCCCCTGTCGAG	0.463000														63			67		0	0	0.000781405	0	0
EGF	1950	broad.mit.edu	37	4	110880567	110880567	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:110880567T>A	uc003hzy.4	+	5	1492	c.1040T>A	c.(1039-1041)cTa>cAa	p.L347Q	EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Missense_Mutation_p.L347Q	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	347	EGF-like 1.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGATACGCCCTAAGTCGAGAC	0.512000														12			11		0	0	0.00136819	0	0
NR1H4	9971	broad.mit.edu	37	12	100926345	100926345	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:100926345G>A	uc001tht.2	+	2	613	c.585G>A	c.(583-585)agG>agA	p.R195R	NR1H4_uc001thq.2_Silent_p.R185R|NR1H4_uc001thp.2_Silent_p.R185R|NR1H4_uc001thr.2_Silent_p.R185R|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Silent_p.R195R	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	195					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E195K(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GTCGACTAAGGAAATGCAAAG	0.403000														10			63		0	0	0.000781405	0	0
GJA3	2700	broad.mit.edu	37	13	20716951	20716951	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:20716951G>A	uc001umx.1	-	1	649	c.477C>T	c.(475-477)ttC>ttT	p.F159F	GJA3_uc021rgz.1_Silent_p.F159F	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	159					cell-cell signaling|visual perception	connexon complex|integral to membrane		p.F159F(2)		NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCCCACCTCGAACAGCGTCT	0.652000														21			17		0	0	0.000566183	0	0
ZNF782	158431	broad.mit.edu	37	9	99580959	99580959	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:99580959G>A	uc004awp.1	-	5	1627	c.1346C>T	c.(1345-1347)cCa>cTa	p.P449L	ZNF782_uc011lup.1_Missense_Mutation_p.P317L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ACATTCGAATGGTTTCTCCCC	0.413000														22			52		0	0	0.000781405	0	0
FKBPL	63943	broad.mit.edu	37	6	32097170	32097171	+	Missense_Mutation	DNP	CC	AA	AA	rs141060542		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:32097170_32097171CC>AA	uc003nzr.3	-	1	657_658	c.387_388GG>TT	c.(385-390)ttgggg>ttTTgg	p.129_130LG>FW	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.129_130LG>FW	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	129					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										AAAGGAAACCCCAAAGCCAGTA	0.569000														510			13		0	0	6.4e-05	0	0
OR4K2	390431	broad.mit.edu	37	14	20344685	20344685	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20344685A>C	uc001vwh.1	+	0	259	c.259A>C	c.(259-261)Aca>Cca	p.T87P		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T87R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATTACCTAACAGGTCACAA	0.413000														103			28		0	0	0.00106085	0	0
SMPD4	55627	broad.mit.edu	37	2	130930247	130930247	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:130930247G>A	uc002tqq.2	-	6	1724	c.575C>T	c.(574-576)cCg>cTg	p.P192L	SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_Missense_Mutation_p.P60L|SMPD4_uc002tqr.2_Missense_Mutation_p.P192L|SMPD4_uc010zaa.2_Missense_Mutation_p.P79L|SMPD4_uc010zab.2_Missense_Mutation_p.P119L|SMPD4_uc002tqt.2_Missense_Mutation_p.P70L|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	153					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	atactcGAACGGATCTGAGAG	0.587000														56			29		0	0	0.000339439	0	0
APBB2	323	broad.mit.edu	37	4	40832494	40832494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:40832494C>T	uc003gvn.3	-	12	2260	c.1630G>A	c.(1630-1632)Gag>Aag	p.E544K	APBB2_uc010ifu.3_Missense_Mutation_p.E115K|APBB2_uc003gvl.3_Missense_Mutation_p.E543K|APBB2_uc003gvm.3_Missense_Mutation_p.E522K|APBB2_uc003gvk.3_5'UTR|APBB2_uc021xnt.1_5'UTR	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	543	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GAGCAGATCTCGTGGAGACTT	0.468000														21			18		0	0	0.000375601	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886022	88886023	+	Nonsense_Mutation	DNP	GG	AA	AA	rs148443990	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:88886022_88886023GG>AA	uc003ydz.3	-	0	274_275	c.177_178CC>TT	c.(175-180)gtccag>gtTTag	p.Q60*		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	60								p.Q60*(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CTATGAATCTGGACCTTTTTCC	0.505000														41			24		0	0	6.4e-05	0	0
PRSS1	5644	broad.mit.edu	37	7	142459835	142459835	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142459835G>A	uc003wak.2	+	2	428	c.411G>A	c.(409-411)acG>acA	p.T137T	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.T77T	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	137	Peptidase S1.		T -> M (in a colorectal cancer sample; somatic mutation).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T137T(4)|p.T137M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCACTGGCACGAAGTGCCTCA	0.552000														41			26		0	0	0.00106085	0	0
DNAH5	1767	broad.mit.edu	37	5	13776791	13776791	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:13776791C>T	uc003jfd.2	-	54	9172	c.9130G>A	c.(9130-9132)Gaa>Aaa	p.E3044K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3044	AAA 4 (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)					TCATCAATTTCATCTCGAGCA	0.393000									Kartagener syndrome					22			12		0	0	0.00136819	0	0
BCAS1	8537	broad.mit.edu	37	20	52601967	52601967	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:52601967G>A	uc002xws.2	-	6	1337	c.999C>T	c.(997-999)acC>acT	p.T333T	BCAS1_uc010zza.1_Silent_p.T91T|BCAS1_uc010zzb.1_Silent_p.T281T|BCAS1_uc010gim.2_Silent_p.T281T|BCAS1_uc002xwt.2_Silent_p.T333T|BCAS1_uc010gil.1_Silent_p.T333T	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	333						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAGCCCCTTGGGTCTCCTGGG	0.498000														51			38		0	0	0.000509022	0	0
OR2A25	392138	broad.mit.edu	37	7	143771381	143771381	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143771381G>A	uc011ktx.2	+	0	69	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CAAGGATTCAGATGCTCCTCT	0.517000														42			22		0	0	0.000229342	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77353807	77353807	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:77353807G>A	uc002ffc.4	-	15	2890	c.2471C>T	c.(2470-2472)tCt>tTt	p.S824F	ADAMTS18_uc010chc.1_Missense_Mutation_p.S412F|ADAMTS18_uc002ffe.1_Missense_Mutation_p.S520F	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	824	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GCGGTTGAAAGAGCGCTGGTA	0.557000														5			16		0	0	0.000566183	0	0
GPR6	2830	broad.mit.edu	37	6	110300401	110300402	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:110300401_110300402GG>AA	uc011eav.2	+	2	375_376	c.131_132GG>AA	c.(130-132)ggg>gAA	p.G44E	GPR6_uc011eaw.2_Missense_Mutation_p.G29E|GPR6_uc003ptu.3_Missense_Mutation_p.G29E|GPR6_uc021zds.1_Missense_Mutation_p.G29E	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	29						integral to plasma membrane		p.L44I(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		acagcagcaggggggccggACA	0.723000														1			24		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9084604	9084604	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9084604G>T	uc002mkp.3	-	0	7415	c.7211C>A	c.(7210-7212)tCc>tAc	p.S2404Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2404	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAGATGGGGAGGAACTTGC	0.458000														13			13		1.61879e-10	9.61605e-10	0.00136819	1	0
HTRA3	94031	broad.mit.edu	37	4	8288468	8288468	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:8288468C>T	uc003gla.3	+	2	873	c.666C>T	c.(664-666)atC>atT	p.I222I	HTRA3_uc003gkz.3_Silent_p.I222I	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	222	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						TCAAAGACATCGACAAGAAGT	0.612000														26			22		0	0	0.000295444	0	0
PDE11A	50940	broad.mit.edu	37	2	178534251	178534251	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:178534251C>T	uc002ulq.3	-	17	2850	c.2532G>A	c.(2530-2532)cgG>cgA	p.R844R	PDE11A_uc002ulp.3_Silent_p.R400R|PDE11A_uc002ulr.3_Silent_p.R594R|PDE11A_uc010zfd.2_Silent_p.R35R|PDE11A_uc002uls.1_Silent_p.R486R|PDE11A_uc002ult.1_Silent_p.R594R|PDE11A_uc002ulu.1_Silent_p.R486R	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	844	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R844L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTAATCTCTCCCGATCTCCTT	0.353000									Primary Pigmented Nodular Adrenocortical Disease, Familial					68			29		0	0	0.000409698	0	0
CLDN11	5010	broad.mit.edu	37	3	170150515	170150515	+	Missense_Mutation	SNP	C	T	T	rs144303681		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:170150515C>T	uc003fgx.3	+	2	797	c.595C>T	c.(595-597)Ccg>Tcg	p.P199S	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fgy.3_Missense_Mutation_p.P115S	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	199				RFYYTAGSSSPTHAKSAHV -> VSTTLRALAPRLMRRVPT YKRAARLPTEVL (in Ref. 1; AAC25187).	calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCTAGCTCCCCGACTCATGC	0.607000														35			28		0	0	0.000409698	0	0
DDX27	55661	broad.mit.edu	37	20	47858689	47858689	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:47858689C>T	uc002xuh.3	+	17	2216	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	719						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAAGAGGAATCGCAGAGCCAA	0.572000														34			20		0	0	0.00121646	0	0
PAPPA2	60676	broad.mit.edu	37	1	176664920	176664920	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:176664920C>T	uc001gkz.3	+	6	3835	c.2671C>T	c.(2671-2673)Cgt>Tgt	p.R891C	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	891					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGGACCTTTCGTCAGTATGT	0.532000														26			48		0	0	0.000781405	0	0
BRWD1	54014	broad.mit.edu	37	21	40649245	40649245	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:40649245G>A	uc002yxk.2	-	10	1331	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	BRWD1_uc021wjf.1_Missense_Mutation_p.H346Y|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.H66Y	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGATTACATGATCAGTACTA	0.333000														22			13		0	0	0.000219431	0	0
KYNU	8942	broad.mit.edu	37	2	143743579	143743579	+	Silent	SNP	G	A	A	rs140758594		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:143743579G>A	uc010fnm.3	+	10	1107	c.891G>A	c.(889-891)acG>acA	p.T297T	KYNU_uc002tvk.3_Silent_p.T297T|KYNU_uc002tvl.3_Silent_p.T297T	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	297					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.T297T(4)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATGCCCATACGATTAAACCTG	0.328000														3			7		0	0	0.000157383	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149214868	149214869	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:149214868_149214869CC>TT	uc003lrc.3	+	6	1838_1839	c.1747_1748CC>TT	c.(1747-1749)cca>TTa	p.P583L	PPARGC1B_uc003lrb.2_Missense_Mutation_p.P583L|PPARGC1B_uc003lrd.3_Missense_Mutation_p.P544L|PPARGC1B_uc021yfr.1_Missense_Mutation_p.P519L|PPARGC1B_uc003lre.1_Missense_Mutation_p.P562L|PPARGC1B_uc003lrf.3_Missense_Mutation_p.P562L	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	583					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CACCAGCGACCCAACTTTTGGC	0.584000														88			35		0	0	6.4e-05	0	0
MYLK	4638	broad.mit.edu	37	3	123512611	123512611	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:123512611G>A	uc003ego.3	-	3	360	c.78C>T	c.(76-78)tcC>tcT	p.S26S	MYLK_uc011bjw.2_Silent_p.S26S|MYLK_uc003egp.3_Silent_p.S26S|MYLK_uc003egq.3_Silent_p.S26S|MYLK_uc003egr.3_Silent_p.S26S|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.S26S|MYLK_uc003egu.1_Silent_p.S36S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	26					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAGGGGCATGGAGTCAACTC	0.547000														23			22		0	0	0.000229342	0	0
AOC3	8639	broad.mit.edu	37	17	41003627	41003628	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:41003627_41003628CC>TT	uc002ibv.3	+	0	427_428	c.267_268CC>TT	c.(265-270)gcccgg>gcTTgg	p.R90W		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	90					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CAGCCCAGGCCCGGCCCTCGGA	0.668000														70			49		0	0	6.4e-05	0	0
LOC494141	494141	broad.mit.edu	37	11	18231202	18231202	+	RNA	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:18231202G>A	uc009yhh.3	+	1		c.226G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AAAAAAAAAAGAAAAAGTCCT	0.328000														16			6		0	0	0.000274275	0	0
TGM7	116179	broad.mit.edu	37	15	43568793	43568793	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:43568793C>T	uc001zrf.1	-	12	1998	c.1993G>A	c.(1993-1995)Gga>Aga	p.G665R		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	665					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	AGGGTGTGTCCGGCCACCAGA	0.592000														56			34		0	0	0.00170553	0	0
NEK9	91754	broad.mit.edu	37	14	75574166	75574166	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:75574166G>A	uc001xrl.3	-	10	1361	c.1207C>T	c.(1207-1209)Cat>Tat	p.H403Y	NEK9_uc001xrk.3_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	403					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGCTGACCATGGAGTTTAGTG	0.398000														30			27		0	0	0.00127121	0	0
ZP2	7783	broad.mit.edu	37	16	21214493	21214493	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:21214493G>A	uc010bwn.1	-	9	1251	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	ZP2_uc002dii.2_Missense_Mutation_p.S351F	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	351	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GATCACCATGGATACTGTCTC	0.403000														27			16		0	0	0.00074312	0	0
PSG7	5676	broad.mit.edu	37	19	43430819	43430819	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43430819C>T	uc002ovl.4	-	4	858	c.756G>A	c.(754-756)gaG>gaA	p.E252E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Silent_p.E131E	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				female pregnancy	extracellular region							Prostate(69;0.00682)				CATCCTTATTCTCCCTGGGGT	0.483000														107			50		0	0	0.000781405	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938476	2938476	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:2938476G>A	uc001ajz.3	+	0	431	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	76						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CTCCCCTTTCGAGCGTGGCCT	0.602000														29			17		0	0	0.00074312	0	0
GTF3C1	2975	broad.mit.edu	37	16	27519910	27519910	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:27519910A>T	uc002dov.2	-	7	1233	c.1193T>A	c.(1192-1194)cTa>cAa	p.L398Q	GTF3C1_uc002dou.3_Missense_Mutation_p.L398Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	398						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTTGCTTCTAGTTTTCCCAC	0.468000														42			39		0	0	0.00128727	0	0
OR1B1	347169	broad.mit.edu	37	9	125391741	125391741	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:125391741G>A	uc011lyz.2	-	0	74	c.74C>T	c.(73-75)tCc>tTc	p.S25F		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GAGAGTGTAGGAGATGTTAGC	0.512000														6			17		0	0	0.00074312	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865602	140865602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140865602C>T	uc003lky.2	+	0	862	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.R288C	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	288	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCCCTGATCGTGTAAGAAA	0.512000														65			42		0	0	0.000781405	0	0
TRIML2	205860	broad.mit.edu	37	4	189020237	189020237	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:189020237G>A	uc011cle.1	-	3	795	c.573C>T	c.(571-573)atC>atT	p.I191I	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.I141I|TRIML2_uc011clf.1_Silent_p.I191I	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	141	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CAAGCTCCACGATGAGCTTTA	0.478000														58			35		0	0	0.000814825	0	0
PCDH12	51294	broad.mit.edu	37	5	141337251	141337251	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:141337251C>T	uc003llx.3	-	0	1377	c.166G>A	c.(166-168)Gag>Aag	p.E56K		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	56	Cadherin 1.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTCTCCTCCCGGCCCAGT	0.602000														61			48		0	0	0.000781405	0	0
POTED	317754	broad.mit.edu	37	21	15013906	15013906	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:15013906G>A	uc002yjb.1	+	11	1826	c.1774_splice	c.e11+1			NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.							plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GACAGCTTAGGATTTTGACAA	0.368000														15			15		0	0	0.000958276	0	0
FAAH2	158584	broad.mit.edu	37	X	57473420	57473420	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:57473420G>A	uc004dvc.3	+	8	1325	c.1176G>A	c.(1174-1176)tgG>tgA	p.W392*		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	392						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTCCTCTGTGGGAGTTGATCA	0.393000										HNSCC(52;0.14)				0			5		0	0	0.00116845	0	0
XRCC5	7520	broad.mit.edu	37	2	217001835	217001835	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:217001835C>T	uc002vfy.3	+	10	1278	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	XRCC5_uc002vfz.3_Silent_p.L266L	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	380	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ACTTTCCTCCCTGATTCATGC	0.408000								Non-homologous end-joining						57			29		0	0	0.00178596	0	0
FBXO38	81545	broad.mit.edu	37	5	147796606	147796606	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:147796606C>T	uc003lpf.1	+	11	1577	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	FBXO38_uc003lpg.1_Missense_Mutation_p.S486L|FBXO38_uc003lph.2_Missense_Mutation_p.S486L	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	486						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGTTTCATCAGCTCTTGTT	0.413000														15			5		0	0	8.12818e-05	0	0
SNX20	124460	broad.mit.edu	37	16	50707821	50707821	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:50707821G>A	uc002egk.2	-	3	620	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	149	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCCTCAGCGAAGTTCCCAG	0.617000														19			19		0	0	0.000229342	0	0
CNTN5	53942	broad.mit.edu	37	11	100141950	100141950	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:100141950G>A	uc001pga.3	+	17	2795	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	CNTN5_uc001pfz.3_Missense_Mutation_p.R764Q|CNTN5_uc021qpb.1_Missense_Mutation_p.R764Q|CNTN5_uc021qpc.1_Missense_Mutation_p.R690Q|CNTN5_uc010ruk.2_Missense_Mutation_p.R35Q	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	764	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R764*(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCCATCTCGAATGATCCGC	0.448000														17			12		0	0	0.000978159	0	0
AKT3	10000	broad.mit.edu	37	1	243675635	243675635	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:243675635G>A	uc001iab.2	-	11	1457	c.1345C>T	c.(1345-1347)Cct>Tct	p.P449S	AKT3_uc001hzz.1_Missense_Mutation_p.P449S|AKT3_uc021plu.1_Missense_Mutation_p.P449S	NM_005465	NP_005456	Q9Y243	AKT3_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) (AKT3), transcript variant 1, mRNA.	449	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CATTTTTCAGGTGGTGTTATT	0.284000														54			18		0	0	0.000566183	0	0
OR8H2	390151	broad.mit.edu	37	11	55872560	55872560	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55872560C>T	uc010riy.2	+	0	42	c.42C>T	c.(40-42)atC>atT	p.I14I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTGACTTCATCCTTATGGGAC	0.433000										HNSCC(53;0.14)				60			45		0	0	0.000781405	0	0
TLL1	7092	broad.mit.edu	37	4	166924680	166924680	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:166924680G>A	uc003irh.2	+	5	1417	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	TLL1_uc021xud.1_Missense_Mutation_p.R257Q|TLL1_uc011cjn.2_Missense_Mutation_p.R257Q|TLL1_uc011cjo.2_Missense_Mutation_p.R81Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	257	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGACCAGATCGAGATAACCAC	0.408000														14			10		0	0	0.000442599	0	0
EMP1	2012	broad.mit.edu	37	12	13366698	13366698	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:13366698T>G	uc001rbr.3	+	3	506	c.259T>G	c.(259-261)Ttc>Gtc	p.F87V	EMP1_uc009zhy.3_Missense_Mutation_p.F20V|EMP1_uc010shr.1_Missense_Mutation_p.F87V	NM_001423	NP_001414	P54849	EMP1_HUMAN	Homo sapiens epithelial membrane protein 1 (EMP1), mRNA.	87					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTTCCAGCTCTTCACCATGGA	0.507000														12			68		0	0	0.000781405	0	0
BCR	613	broad.mit.edu	37	22	23615826	23615827	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:23615826_23615827GC>AA	uc002zww.3	+	7	2576_2577	c.1980_1981GC>AA	c.(1978-1983)ttgctg>ttAAtg	p.L661M	BCR_uc002zwx.3_Missense_Mutation_p.L661M|BCR_uc011aiy.2_Missense_Mutation_p.L250M|BCR_uc010gtx.1_Missense_Mutation_p.L128M	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	661	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						GGCAGGACTTGCTGAAGCACAC	0.574000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									38			21		0	0	6.4e-05	0	0
ZNF831	128611	broad.mit.edu	37	20	57769222	57769222	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:57769222G>A	uc002yan.3	+	0	3148	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1050						intracellular	nucleic acid binding|zinc ion binding	p.E1050D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCTCCCAGGGAGGCTACCTC	0.637000														5			6		0	0	0.00116845	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183590	11183590	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:11183590G>A	uc001qzo.1	-	0	417	c.345C>T	c.(343-345)aaC>aaT	p.N115N	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA.	115					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						GAAAAATAAGGTTGGAGAAAT	0.398000														67			62		0	0	0.000781405	0	0
MLL5	55904	broad.mit.edu	37	7	104741913	104741913	+	Silent	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:104741913T>C	uc003vcm.3	+	15	2298	c.1764T>C	c.(1762-1764)ttT>ttC	p.F588F	MLL5_uc010ljc.3_Silent_p.F588F|MLL5_uc010lje.1_Non-coding_Transcript	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	588					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TGCAAGCTTTTGCCAGACTTG	0.313000														39			30		0	0	0.000339439	0	0
BMP1	649	broad.mit.edu	37	8	22052092	22052092	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:22052092C>T	uc003xbg.3	+	10	1698	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	BMP1_uc003xbf.3_Nonsense_Mutation_p.Q227*|BMP1_uc003xbb.3_Nonsense_Mutation_p.Q478*|BMP1_uc003xbc.3_Nonsense_Mutation_p.Q227*|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Nonsense_Mutation_p.Q227*|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	478	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTCACATTCCAGTCCTTTGA	0.582000														39			26		0	0	0.00178596	0	0
LRRC36	55282	broad.mit.edu	37	16	67399213	67399213	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:67399213G>A	uc002esv.3	+	6	728	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	LRRC36_uc002esw.3_Intron|LRRC36_uc010ceh.3_Missense_Mutation_p.E116K|LRRC36_uc002esx.3_Missense_Mutation_p.E116K|LRRC36_uc010vjk.2_Missense_Mutation_p.E116K|LRRC36_uc010vjl.2_Intron	NM_018296	NP_060766	Q1X8D7	LRC36_HUMAN	Homo sapiens leucine rich repeat containing 36 (LRRC36), transcript variant 1, mRNA.	237										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TTAGACACAGGAAGTAGCAAG	0.403000														12			7		0	0	0.000442599	0	0
CFH	3075	broad.mit.edu	37	1	196694307	196694307	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:196694307G>A	uc001gtj.4	+	11	1993	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	585	Sushi 10.				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						TCGCAAGAAAGACCAGTATAA	0.353000														4			13		0	0	0.00136819	0	0
ALPK3	57538	broad.mit.edu	37	15	85383214	85383214	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:85383214C>T	uc002ble.3	+	4	1477	c.1310C>T	c.(1309-1311)cCc>cTc	p.P437L		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	437					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCGCCGGGCCCCTCGGTCCCT	0.667000														7			14		0	0	0.000151284	0	0
CDKAL1	54901	broad.mit.edu	37	6	21065409	21065410	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:21065409_21065410CC>AA	uc003ndd.2	+	11	1353_1354	c.1186_1187CC>AA	c.(1186-1188)cca>AAa	p.P396K	CDKAL1_uc003nde.2_Missense_Mutation_p.P326K|CDKAL1_uc021ymk.1_Missense_Mutation_p.P396K|CDKAL1_uc003ndf.2_5'UTR	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	396					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CCAATTTTACCCAAGACCAGGA	0.371000														527			12		0	0	6.4e-05	0	0
ANO3	63982	broad.mit.edu	37	11	26681885	26681885	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:26681885G>A	uc001mqt.4	+	26	2985	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	ANO3_uc010rdr.2_Missense_Mutation_p.R931Q|ANO3_uc010rds.2_Missense_Mutation_p.R786Q|ANO3_uc010rdt.2_Missense_Mutation_p.R801Q	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	947						chloride channel complex	chloride channel activity	p.R947*(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GACCGAATACGACGAGAGAAG	0.413000														3			19		0	0	0.00074312	0	0
PALMD	54873	broad.mit.edu	37	1	100155120	100155120	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:100155120G>A	uc001dsg.3	+	6	1747	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	435					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TTTCTGACAGGATATGATGGG	0.478000														9			10		0	0	0.000673444	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99662229	99662229	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:99662229G>A	uc003uso.3	+	3	1555	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ZSCAN21_uc003usn.1_Silent_p.E435E|ZNF3_uc003usp.3_3'UTR	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	471					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TGGAGAGGGAGAAGCACCGTA	0.468000														39			24		0	0	0.000375601	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118202572	118202572	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:118202572C>T	uc001lcl.4	+	2	311	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	70					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		AACAGGAGATCAGTGCGGTTA	0.358000														4			7		0	0	8.12818e-05	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74904478	74904478	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:74904478C>T	uc001owb.3	+	8	1686	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLCO2B1_uc010rrq.2_Silent_p.L176L|SLCO2B1_uc010rrr.2_Silent_p.L287L|SLCO2B1_uc010rrs.2_Silent_p.L315L|SLCO2B1_uc001owc.3_Silent_p.L204L|SLCO2B1_uc001owd.3_Silent_p.L409L	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	431					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	GGGTGGCGTCCTGGTCAAGCG	0.632000														25			21		0	0	0.000295444	0	0
HAPLN2	60484	broad.mit.edu	37	1	156594495	156594495	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:156594495G>A	uc001fpn.1	+	5	1066	c.659G>A	c.(658-660)cGg>cAg	p.R220Q		NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 2 (HAPLN2), mRNA.	220	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCGAGGCCGGCCCGGGATC	0.741000														10			6		0	0	0.00116845	0	0
CFHR2	3080	broad.mit.edu	37	1	196918710	196918710	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:196918710C>T	uc001gtq.1	+	1	261	c.184C>T	c.(184-186)Cct>Tct	p.P62S	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	62	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TTTTGTGTCTCCTTCAAAATC	0.383000														19			37		0	0	0.000953801	0	0
L1TD1	54596	broad.mit.edu	37	1	62675517	62675517	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:62675517C>T	uc021ooc.1	+	4	1506	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	L1TD1_uc001dae.4_Silent_p.F357F	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	357										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GCTTGAGCTTCCTATTTCTTA	0.378000														97			64		0	0	0.000781405	0	0
MATR3	9782	broad.mit.edu	37	5	138661307	138661307	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:138661307C>T	uc003ldw.3	+	13	2874	c.2471C>T	c.(2470-2472)cCa>cTa	p.P824L	MATR3_uc003ldt.3_Missense_Mutation_p.P438L|MATR3_uc003ldu.3_Missense_Mutation_p.P776L|MATR3_uc010jfb.3_Missense_Mutation_p.P776L|MATR3_uc003ldx.3_Missense_Mutation_p.P776L|MATR3_uc003ldz.3_Missense_Mutation_p.P776L|MATR3_uc011czb.2_Missense_Mutation_p.P488L|MATR3_uc003leb.3_Missense_Mutation_p.P438L|MATR3_uc003lec.3_Missense_Mutation_p.P453L	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	776						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TATACAATCCCAGATGAGTAT	0.418000														32			28		0	0	0.00178596	0	0
SPPL2B	56928	broad.mit.edu	37	19	2345312	2345312	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:2345312C>T	uc002lvs.3	+	13	1415	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F	SPPL2B_uc002lvr.3_Silent_p.F445F	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	446						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						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)		GGGTATACTTCGTGGCCTGCA	0.647000														20			9		0	0	0.000673444	0	0
C1orf127	148345	broad.mit.edu	37	1	11015072	11015072	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:11015072G>A	uc010oao.2	-	8	950	c.950C>T	c.(949-951)cCg>cTg	p.P317L	C1orf127_uc001ars.2_Missense_Mutation_p.P178L|C1orf127_uc001arr.2_Missense_Mutation_p.P160L	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	168								p.S317S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCCGGCCGCCGGAATGCTGAC	0.557000														20			18		0	0	0.000375601	0	0
EFR3A	23167	broad.mit.edu	37	8	133014007	133014007	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:133014007T>C	uc003yte.3	+	20	2362	c.2158_splice	c.e20-1	p.V720_splice		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	720						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTCTCTAGGTTAGTAACACT	0.303000														52			32		0	0	0.00058488	0	0
CCDC68	80323	broad.mit.edu	37	18	52608269	52608269	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:52608269C>T	uc002lfs.3	-	3	335	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	CCDC68_uc002lft.3_Missense_Mutation_p.E55K	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	55										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TGTCTTATTTCATCTTTAAAC	0.323000														29			14		0	0	0.000219431	0	0
SOX6	55553	broad.mit.edu	37	11	16071335	16071335	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:16071335G>A	uc001mme.3	-	10	1473	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	SOX6_uc001mmd.3_Silent_p.P429P|SOX6_uc001mmf.3_Silent_p.P426P|SOX6_uc001mmg.3_Silent_p.P467P	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	467					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCCTCCAATGGGGCTAGGGA	0.488000														4			30		0	0	0.000491102	0	0
OR7E24	26648	broad.mit.edu	37	19	9361851	9361851	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9361851C>T	uc002mlb.1	+	0	132	c.132C>T	c.(130-132)gtC>gtT	p.V44V		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGCAGCCGGTCCTCGCTGGGC	0.577000														14			8		0	0	0.000274275	0	0
PREX2	80243	broad.mit.edu	37	8	69009299	69009299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:69009299G>A	uc003xxv.1	+	21	2443	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K	PREX2_uc003xxu.1_Missense_Mutation_p.E806K|PREX2_uc011lez.1_Missense_Mutation_p.E741K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	806					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.K805K(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGGGAAGAAGGAGCATGTGAG	0.423000														16			8		0	0	0.000274275	0	0
MAML2	84441	broad.mit.edu	37	11	95826061	95826061	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:95826061G>A	uc001pfw.1	-	1	2419	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	378					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GCTGAGGAGAGCCTGAGGGGC	0.582000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									14			9		0	0	0.000274275	0	0
MBD5	55777	broad.mit.edu	37	2	149243361	149243361	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:149243361C>T	uc002twm.4	+	10	3893	c.2896C>T	c.(2896-2898)Cta>Tta	p.L966L	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Silent_p.L224L|MBD5_uc002twp.3_Silent_p.L16L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	966						chromosome|nucleus	DNA binding|chromatin 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)		ACTGACTCATCTACAGTCGCT	0.383000														11			7		0	0	8.12818e-05	0	0
CLIP4	79745	broad.mit.edu	37	2	29366724	29366724	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:29366724C>T	uc002rmv.3	+	6	1037	c.798C>T	c.(796-798)ctC>ctT	p.L266L	CLIP4_uc002rmu.3_Silent_p.L266L|CLIP4_uc010ezm.1_Silent_p.L266L|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Silent_p.L248L	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	266										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AGGCCATGCTCCCAAATTATG	0.488000														36			25		0	0	0.00047179	0	0
FBN3	84467	broad.mit.edu	37	19	8175829	8175829	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:8175829C>T	uc002mjf.3	-	32	4250	c.4233G>A	c.(4231-4233)ggG>ggA	p.G1411G		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1411	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGAGGTTCCCTTGCGCAC	0.632000														26			30		0	0	0.001512	0	0
SSFA2	6744	broad.mit.edu	37	2	182765502	182765502	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:182765502G>A	uc002uoi.3	+	6	905	c.583G>A	c.(583-585)Gat>Aat	p.D195N	SSFA2_uc002uoh.3_Missense_Mutation_p.D195N|SSFA2_uc002uoj.3_Missense_Mutation_p.D195N|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.D42N|SSFA2_uc002uol.3_Missense_Mutation_p.D42N	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	195						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TGATGAACCAGATATTGCTTC	0.343000														40			20		0	0	0.00121646	0	0
PCLO	27445	broad.mit.edu	37	7	82435017	82435017	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:82435017G>A	uc003uhx.2	-	20	15209	c.14920C>T	c.(14920-14922)Cct>Tct	p.P4974S		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4897	C2 2.				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						CTCGGAATAGGAAATAGATTA	0.473000														7			6		0	0	8.12818e-05	0	0
PARP8	79668	broad.mit.edu	37	5	50090706	50090706	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:50090706C>T	uc003jon.4	+	12	1065	c.883C>T	c.(883-885)Cct>Tct	p.P295S	PARP8_uc011cpz.2_Missense_Mutation_p.P187S|PARP8_uc003joo.3_Missense_Mutation_p.P295S|PARP8_uc003jop.3_Missense_Mutation_p.P295S	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	295						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTATCCTCCCCCTGGTTGTGG	0.463000														25			11		0	0	0.000978159	0	0
HAO1	54363	broad.mit.edu	37	20	7866213	7866213	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:7866213G>A	uc002wmw.1	-	6	1021	c.997C>T	c.(997-999)Ctc>Ttc	p.L333F	HAO1_uc010gbu.3_Missense_Mutation_p.L333F	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	333	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGTATCTCGAGGACATCTTGA	0.373000														7			5		0	0	0.000157383	0	0
CD8B	926	broad.mit.edu	37	2	87085475	87085475	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:87085475C>T	uc002srw.3	-	1	167	c.108G>A	c.(106-108)atG>atA	p.M36I	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Missense_Mutation_p.M36I|CD8B_uc002sry.3_Missense_Mutation_p.M36I|CD8B_uc010fgt.3_Missense_Mutation_p.M36I|CD8B_uc002srz.3_Missense_Mutation_p.M36I|CD8B_uc010yto.2_Missense_Mutation_p.M36I	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	36	Ig-like V-type.				T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGCATCACCATCTTGTTGG	0.512000														42			29		0	0	0.000692331	0	0
ZNF486	90649	broad.mit.edu	37	19	20296886	20296886	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:20296886C>T	uc002nou.2	+	2	305	c.248C>T	c.(247-249)cCc>cTc	p.P83L		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	Homo sapiens zinc finger protein 486 (ZNF486), mRNA.	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTGCCAAACCCCCAGGTAGG	0.428000														30			19		0	0	0.000229342	0	0
ZNF611	81856	broad.mit.edu	37	19	53208329	53208329	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53208329A>T	uc002pzz.3	-	6	2296	c.1979T>A	c.(1978-1980)gTg>gAg	p.V660E	ZNF611_uc010eqc.3_Missense_Mutation_p.V590E|ZNF611_uc010ydo.2_Missense_Mutation_p.V590E|ZNF611_uc010ydp.2_Missense_Mutation_p.V660E|ZNF611_uc010ydq.2_Missense_Mutation_p.V660E|ZNF611_uc010ydr.2_Missense_Mutation_p.V591E|ZNF611_uc002qaa.4_Missense_Mutation_p.V590E|ZNF611_uc021uyy.1_Missense_Mutation_p.V591E	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGAATTACGCACGAAAGCCTT	0.403000														77			54		0	0	0.000781405	0	0
TNXB	7148	broad.mit.edu	37	6	32036656	32036657	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:32036656_32036657GG>TT	uc003nzl.2	-	15	6046_6047	c.5844_5845CC>AA	c.(5842-5847)accctg>acAAtg	p.L1949M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2031					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						AAACCATACAGGGTCACCAGGT	0.550000														553			21		0	0	6.4e-05	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15115607	15115607	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:15115607G>A	uc003bzm.1	-	13	2651	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	ZFYVE20_uc010hek.1_Silent_p.F679F	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	679	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGGCTGAATGAATGGATTCC	0.557000														79			58		0	0	0.000781405	0	0
EMR1	2015	broad.mit.edu	37	19	6897529	6897529	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6897529G>A	uc002mfw.3	+	4	523	c.485G>A	c.(484-486)gGa>gAa	p.G162E	EMR1_uc010dvc.3_Missense_Mutation_p.G162E|EMR1_uc010dvb.3_Missense_Mutation_p.G110E|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Intron	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	162	EGF-like 3; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGTCAAGTTGGATTCATCTCT	0.438000														28			24		0	0	0.000586117	0	0
ZNF99	7652	broad.mit.edu	37	19	22952122	22952122	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:22952122G>A	uc021urt.1	-	1	163	c.8C>T	c.(7-9)tCg>tTg	p.S3L		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.S24W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAATGTCAACGATCCCTGAAA	0.388000														34			23		0	0	0.00047179	0	0
WDR96	80217	broad.mit.edu	37	10	105890062	105890062	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:105890062C>T	uc001kxw.3	-	38	4948	c.4832_splice	c.e38-1	p.G1611_splice	WDR96_uc009xxq.3_Splice_Site_p.G890_splice	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1611										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCAGTTTAGACCCTATCCCAA	0.333000														45			14		0	0	0.000151284	0	0
CSMD3	114788	broad.mit.edu	37	8	113275990	113275990	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:113275990G>T	uc003ynu.3	-	60	9899	c.9740C>A	c.(9739-9741)aCa>aAa	p.T3247K	CSMD3_uc003yns.3_Missense_Mutation_p.T2449K|CSMD3_uc003ynt.3_Missense_Mutation_p.T3207K|CSMD3_uc011lhx.2_Missense_Mutation_p.T3078K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3247	Sushi 25.					integral to membrane|plasma membrane		p.T3247T(1)|p.G3246R(1)		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						GTCGAAATTTGTTCCTTCCAG	0.453000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				9			13		1.52009e-12	9.05646e-12	0.000308642	1	0
FMO3	2328	broad.mit.edu	37	1	171086447	171086447	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:171086447C>T	uc001ghi.3	+	8	1575	c.1464C>T	c.(1462-1464)acC>acT	p.T488T	FMO3_uc001ghh.3_Silent_p.T488T|FMO3_uc010pmb.2_Silent_p.T468T|FMO3_uc010pmc.2_Silent_p.T425T	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	488					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCATACTGACCCAGTGGGACC	0.527000														24			4		0	0	0.000602214	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413716	22413716	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:22413716C>T	uc001yuf.3	+	0	255	c.15C>T	c.(13-15)ttC>ttT	p.F5F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGGTGGACTTCCTCTCTGAGA	0.512000														137			16		0	0	0.00121646	0	0
PACS1	55690	broad.mit.edu	37	11	66010697	66010697	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:66010697C>T	uc001oha.2	+	23	2972	c.2838C>T	c.(2836-2838)ccC>ccT	p.P946P	PACS1_uc010rou.2_Silent_p.P482P	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	946					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCCAGTGGCCCACCCATGTCA	0.607000														9			5		0	0	0.000602214	0	0
WDR17	116966	broad.mit.edu	37	4	177041242	177041242	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:177041242C>T	uc003iuj.3	+	4	907	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	WDR17_uc003ium.4_Missense_Mutation_p.H178Y|WDR17_uc003iul.2_Intron	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	202										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATCAATTTTTCATCCAGGTAA	0.338000														67			32		0	0	0.000409698	0	0
NGEF	25791	broad.mit.edu	37	2	233748746	233748746	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:233748746C>T	uc002vts.2	-	10	1794	c.1546G>A	c.(1546-1548)Gaa>Aaa	p.E516K	NGEF_uc010zmm.1_Missense_Mutation_p.E239K|NGEF_uc010fyg.1_Missense_Mutation_p.E424K	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	516	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		AGGTAAATTTCGTGGAAGAGC	0.612000														17			11		0	0	0.000151284	0	0
SERPINC1	462	broad.mit.edu	37	1	173883882	173883882	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:173883882G>A	uc001gjt.3	-	1	336	c.217C>T	c.(217-219)Ccg>Tcg	p.P73S		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	73			P -> L (in AT3D; type-II; Basel/ Franconville/Clichy-1/Clichy-2/Dublin-2; lacks heparin-binding ability).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GTGGCCTCCGGGATCTTCTGT	0.552000											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		115			55		0	0	0.000781405	0	0
OR4K1	79544	broad.mit.edu	37	14	20404440	20404440	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20404440G>A	uc001vwj.2	+	0	674	c.615G>A	c.(613-615)ctG>ctA	p.L205L		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACAGTGGCCTGATATCATTGA	0.438000														29			6		0	0	0.00116845	0	0
MAP3K12	7786	broad.mit.edu	37	12	53879190	53879190	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:53879190C>T	uc001sdn.2	-	4	1162	c.891G>A	c.(889-891)aaG>aaA	p.K297K	MAP3K12_uc001sdm.2_Silent_p.K264K	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	264	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TCTTGGTGCTCTTGTCACTCA	0.517000														18			154		0	0	0.000781405	0	0
UNC5B	219699	broad.mit.edu	37	10	73048424	73048424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:73048424G>A	uc001jro.3	+	6	1452	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	UNC5B_uc001jrp.3_Missense_Mutation_p.G334E	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	334	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCCCAGAACGGAGGCCGTGAC	0.657000														18			18		0	0	0.000566183	0	0
KAT6B	23522	broad.mit.edu	37	10	76789951	76789951	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:76789951C>T	uc001jwn.1	+	17	5862	c.5369C>T	c.(5368-5370)gCc>gTc	p.A1790V	KAT6B_uc001jwo.1_Missense_Mutation_p.A1498V|KAT6B_uc001jwp.1_Missense_Mutation_p.A1607V	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1790	Interaction with RUNX1 and RUNX2.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										ACGAGCAACGCCAACATTGGC	0.587000														28			33		0	0	0.00058488	0	0
GPR98	84059	broad.mit.edu	37	5	89943320	89943320	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:89943320C>T	uc003kju.3	+	16	3124	c.3028C>T	c.(3028-3030)Cgt>Tgt	p.R1010C	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1010					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCAGAACCTCGTGTAGTGAG	0.438000														23			14		0	0	0.000308642	0	0
OR10G4	390264	broad.mit.edu	37	11	123886880	123886880	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:123886880T>G	uc010sac.2	+	0	599	c.599T>G	c.(598-600)gTg>gGg	p.V200G		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTCATCTTTGTGGACATTGGG	0.552000														22			37		0	0	0.00148497	0	0
PCSK6	5046	broad.mit.edu	37	15	101970250	101970250	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:101970250C>T	uc002bxa.2	-	5	987	c.673G>A	c.(673-675)Gac>Aac	p.D225N	PCSK6_uc010bpd.3_Missense_Mutation_p.D96N|PCSK6_uc002bwy.3_Missense_Mutation_p.D225N|PCSK6_uc010bpe.3_Missense_Mutation_p.D222N|PCSK6_uc002bxb.2_Missense_Mutation_p.D225N|PCSK6_uc002bxc.1_Missense_Mutation_p.D225N|PCSK6_uc002bxd.1_Missense_Mutation_p.D225N|PCSK6_uc002bxe.3_Missense_Mutation_p.D225N|PCSK6_uc002bxg.1_Missense_Mutation_p.D225N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	226	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCGTTCACGTCGTAGCTGGCG	0.478000														24			12		0	0	0.000151284	0	0
KLF17	128209	broad.mit.edu	37	1	44595563	44595563	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:44595563C>T	uc001clp.3	+	1	678	c.620C>T	c.(619-621)tCc>tTc	p.S207F	KLF17_uc009vxf.1_Missense_Mutation_p.S170F	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	207					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)					GTGCTCCCCTCCATGGCTCAG	0.582000														36			19		0	0	0.00152264	0	0
IFT122	55764	broad.mit.edu	37	3	129202459	129202459	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:129202459C>T	uc003eml.3	+	15	2144	c.1938C>T	c.(1936-1938)gtC>gtT	p.V646V	IFT122_uc003emm.3_Silent_p.V595V|IFT122_uc003emn.3_Silent_p.V536V|IFT122_uc003emo.3_Silent_p.V484V|IFT122_uc003emp.3_Silent_p.V445V|IFT122_uc010htc.3_Silent_p.V587V|IFT122_uc011bky.2_Silent_p.V386V|IFT122_uc011bla.2_Silent_p.V386V|IFT122_uc003emr.3_Silent_p.V386V|IFT122_uc011bkx.1_Silent_p.V435V|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_Silent_p.V74V	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	595					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCTTTGTGGTCGGCTACAATG	0.582000														0			12		0	0	0.000219431	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740553	37740553	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:37740553G>A	uc004aag.1	+	14	2072	c.2028G>A	c.(2026-2028)gaG>gaA	p.E676E	FRMPD1_uc004aah.1_Silent_p.E676E|FRMPD1_uc011lqm.2_Silent_p.E498E|FRMPD1_uc011lqn.2_Silent_p.E545E	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	676						cytoskeleton|cytosol|plasma membrane		p.S675S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTTTTCCGAGAGTGCTGCTT	0.582000														4			12		0	0	0.000978159	0	0
RBM46	166863	broad.mit.edu	37	4	155719262	155719262	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:155719262G>A	uc003ioo.3	+	2	624	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	RBM46_uc011cim.1_Missense_Mutation_p.E151K|RBM46_uc003iop.1_Missense_Mutation_p.E151K	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	151	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TATTCCCAAGGAAAAGAAGAA	0.328000														50			32		0	0	0.00058488	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526640	97526640	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:97526640G>A	uc002sxg.4	-	12	2615	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	ANKRD39_uc002sxd.4_5'Flank|SEMA4C_uc002sxf.4_Missense_Mutation_p.S242F|SEMA4C_uc002sxe.3_Missense_Mutation_p.S283F|SEMA4C_uc002sxh.4_Missense_Mutation_p.S742F	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	742					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						TATCTTAAGGGAGCCATCTGA	0.627000														25			29		0	0	0.000339439	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558485	129558485	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:129558485C>T	uc009zyl.1	-	8	3563	c.3235G>A	c.(3235-3237)Gat>Aat	p.D1079N	TMEM132D_uc001uia.2_Missense_Mutation_p.D617N	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1079						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGGTCCAGATCCTGGCAGACC	0.507000														14			94		0	0	0.000781405	0	0
MYH7B	57644	broad.mit.edu	37	20	33578806	33578807	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:33578806_33578807GG>AA	uc002xbi.2	+	24	2509	c.2192_splice	c.e24-1	p.G731_splice	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	689	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTCACGTCCAGGGGTCATGGAT	0.604000														29			16		0	0	6.4e-05	0	0
DNAH17	8632	broad.mit.edu	37	17	76525569	76525569	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:76525569G>A	uc010dhp.2	-	21	3617	c.3492C>T	c.(3490-3492)atC>atT	p.I1164I		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTTCAAGTGGATCTCCTCTG	0.597000														100			33		0	0	0.00170553	0	0
TNN	63923	broad.mit.edu	37	1	175049373	175049373	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:175049373C>T	uc001gkl.1	+	3	972	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	TNN_uc010pmx.1_Nonsense_Mutation_p.Q287*	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	287	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCCTCCAGCCAGGTGGATCA	0.597000														41			8		0	0	0.000157383	0	0
OBSCN	84033	broad.mit.edu	37	1	228504468	228504468	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:228504468G>A	uc009xez.1	+	50	13388	c.13344G>A	c.(13342-13344)caG>caA	p.Q4448Q	OBSCN_uc001hsn.3_Silent_p.Q4448Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4448	Ig-like 46.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				CCGGCGCACAGGCATGCTTCA	0.672000														10			21		0	0	0.000229342	0	0
CCDC37	348807	broad.mit.edu	37	3	126155162	126155162	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:126155162G>A	uc010hsg.1	+	15	1813	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q	CCDC37_uc003eiu.1_Missense_Mutation_p.R584Q	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	584										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TGCCGCTCACGACCCCCAGCC	0.547000														18			14		0	0	0.000308642	0	0
EVX2	344191	broad.mit.edu	37	2	176948122	176948122	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:176948122G>A	uc010zeu.2	-	0	569	c.383C>T	c.(382-384)cCc>cTc	p.P128L		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	128						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GAGGCCCCCGGGGGAGCGAAG	0.687000														13			6		0	0	8.12818e-05	0	0
HEATR5B	54497	broad.mit.edu	37	2	37285625	37285625	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:37285625G>A	uc002rpp.1	-	13	2124	c.2028C>T	c.(2026-2028)atC>atT	p.I676I		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	676							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACAAAGCCAAGATATCATAAA	0.318000														36			24		0	0	0.000720815	0	0
CSDE1	7812	broad.mit.edu	37	1	115268872	115268872	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:115268872C>T	uc001efi.3	-	14	2260	c.1738G>A	c.(1738-1740)Gaa>Aaa	p.E580K	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.E534K|CSDE1_uc001efm.3_Missense_Mutation_p.E549K|CSDE1_uc009wgv.3_Missense_Mutation_p.E534K|CSDE1_uc001efl.3_Missense_Mutation_p.E503K|CSDE1_uc001efn.3_Missense_Mutation_p.E503K	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	534					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGCTGTTTCAATAAATCCA	0.398000														17			13		0	0	0.000151284	0	0
GABRG3	2567	broad.mit.edu	37	15	27772760	27772760	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:27772760G>A	uc001zbg.2	+	7	1301	c.1047G>A	c.(1045-1047)acG>acA	p.T349T		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	349					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T349T(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CAACCACCACGAAGAAGACAA	0.493000														10			5		0	0	0.000602214	0	0
GPR112	139378	broad.mit.edu	37	X	135431445	135431445	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:135431445G>A	uc004ezu.1	+	5	5871	c.5580G>A	c.(5578-5580)atG>atA	p.M1860I	GPR112_uc010nsb.1_Missense_Mutation_p.M1655I|GPR112_uc010nsc.1_Missense_Mutation_p.M1627I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1860					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATCCCAAATGGTTGAATTTC	0.438000														1			7		0	0	8.12818e-05	0	0
HMGCR	3156	broad.mit.edu	37	5	74638496	74638497	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:74638496_74638497GG>TT	uc011cst.2	+	1	378_379	c.126_127GG>TT	c.(124-129)gtgggg>gtTTgg	p.G43W	HMGCR_uc003kdp.3_Missense_Mutation_p.G23W|HMGCR_uc003kdq.3_Missense_Mutation_p.G23W|HMGCR_uc010izn.1_5'Flank	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	23					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AAGTCATAGTGGGGACAGTGAC	0.436000														634			14		0	0	6.4e-05	0	0
CLUL1	27098	broad.mit.edu	37	18	624990	624990	+	Silent	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:624990T>A	uc010wys.2	+	5	771	c.537T>A	c.(535-537)atT>atA	p.I179I	CLUL1_uc002kkp.3_Silent_p.I127I|CLUL1_uc002kkq.3_Silent_p.I127I	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	127					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						GCATGAGAATTTATACAACCT	0.438000														31			15		0	0	0.000422831	0	0
ATP1A2	477	broad.mit.edu	37	1	160105253	160105253	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:160105253G>A	uc001fvc.3	+	15	2277	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G	ATP1A2_uc001fvb.2_Silent_p.G715G|ATP1A2_uc001fvd.3_Silent_p.G451G	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	715			G -> R (in FHM2; de novo mutation in a sporadic case).		ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CGGGTGACGGGGTGAACGACT	0.602000														32			40		0	0	0.000589545	0	0
SPTA1	6708	broad.mit.edu	37	1	158609699	158609699	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158609699G>A	uc001fst.1	-	33	5035	c.4836C>T	c.(4834-4836)ttC>ttT	p.F1612F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1612					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)					TGCTTGTGTTGAACCTCTGTT	0.453000														25			36		0	0	0.000814825	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30094910	30094910	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:30094910C>T	uc003taq.3	+	8	1393	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PLEKHA8_uc022aba.1_Missense_Mutation_p.P331S|PLEKHA8_uc003tan.3_Missense_Mutation_p.P331S	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	331					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAGTGGCATTCCCACAGAAGC	0.403000														66			41		0	0	0.000781405	0	0
LOC440563	440563	broad.mit.edu	37	1	13183212	13183212	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:13183212C>T	uc010obg.2	-	1	904	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	221						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TGCTCCTCTTCTGACTTAGCA	0.463000														41			22		0	0	0.00047179	0	0
MYH4	4622	broad.mit.edu	37	17	10356141	10356141	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:10356141C>T	uc002gmn.3	-	24	3331	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1074					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGTCATTTTCTGTATCCATT	0.368000														71			55		0	0	0.000781405	0	0
KIAA1462	57608	broad.mit.edu	37	10	30318274	30318274	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:30318274T>C	uc009xle.2	-	2	940	c.803A>G	c.(802-804)aAt>aGt	p.N268S	KIAA1462_uc001iux.3_Missense_Mutation_p.N268S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.N130S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	268	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GGAGTCCAAATTTGGTGCGCA	0.527000														37			29		0	0	0.001512	0	0
OTOGL	283310	broad.mit.edu	37	12	80726841	80726841	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:80726841A>C	uc001szd.3	+	36	4384	c.4378A>C	c.(4378-4380)Aca>Cca	p.T1460P		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AACACCAACTACAGGCTTGGA	0.363000														1			4		0	0	0.000602214	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37454074	37454074	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:37454074G>A	uc021ppc.1	+	17	1986	c.1887G>A	c.(1885-1887)tgG>tgA	p.W629*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.W629*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	685						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAAATTCTTGGGATACTGAGG	0.323000														34			21		0	0	0.000295444	0	0
GPR179	440435	broad.mit.edu	37	17	36485008	36485008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:36485008C>T	uc002hpz.3	-	10	4465	c.4444G>A	c.(4444-4446)Gag>Aag	p.E1482K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1482						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCATCCAGCTCCCAGGGACAG	0.512000														72			70		0	0	0.000781405	0	0
DPYS	1807	broad.mit.edu	37	8	105456623	105456623	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:105456623C>T	uc003yly.4	-	3	775	c.646G>A	c.(646-648)Ggc>Agc	p.G216S		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	216					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	p.G216C(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGCTCGTGGCCCTCAGGGCCT	0.527000														22			21		0	0	0.00047179	0	0
DGKH	160851	broad.mit.edu	37	13	42729831	42729831	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:42729831C>T	uc001uyl.2	+	4	585	c.518C>T	c.(517-519)tCa>tTa	p.S173L	DGKH_uc010tfh.2_Missense_Mutation_p.S173L|DGKH_uc001uym.2_Missense_Mutation_p.S173L|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Nonsense_Mutation_p.Q6*|DGKH_uc001uyo.2_Missense_Mutation_p.S37L|DGKH_uc010tfj.2_Missense_Mutation_p.S37L|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	173					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GAACATTTCTCAGGGATGCAC	0.522000														47			44		0	0	0.000509022	0	0
TRIB1	10221	broad.mit.edu	37	8	126448340	126448340	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:126448340T>A	uc003yrx.3	+	2	1328	c.746T>A	c.(745-747)gTg>gAg	p.V249E	TRIB1_uc011lis.2_Missense_Mutation_p.V83E|TRIB1_uc010mdn.3_Missense_Mutation_p.V18E|TRIB1_uc022bay.1_5'Flank	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	Homo sapiens tribbles homolog 1 (Drosophila) (TRIB1), mRNA.	249	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			CCAGCCTACGTGAGCCCTGAG	0.527000														185			107		0	0	0.000781405	0	0
STAU2	27067	broad.mit.edu	37	8	74464404	74464404	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:74464404G>A	uc003xzm.3	-	12	1714	c.1373C>T	c.(1372-1374)tCg>tTg	p.S458L	STAU2_uc011lfh.2_Missense_Mutation_p.S354L|STAU2_uc003xzn.3_Missense_Mutation_p.S426L|STAU2_uc011lfg.2_Missense_Mutation_p.S286L|STAU2_uc003xzo.3_Missense_Mutation_p.S458L|STAU2_uc003xzq.3_Missense_Mutation_p.S238L|STAU2_uc003xzp.3_Missense_Mutation_p.S426L|STAU2_uc011lfi.2_Missense_Mutation_p.S420L|STAU2_uc010lzk.3_Missense_Mutation_p.S426L|STAU2_uc010lzl.1_Missense_Mutation_p.S286L	NM_001164380	NP_001157855	Q9NUL3	STAU2_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 2 (Drosophila) (STAU2), transcript variant 1, mRNA.	458	Required for dendritic transport (By similarity).				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TGAACTATTCGATGTGGGAGA	0.443000														69			42		0	0	0.000781405	0	0
GYS1	2997	broad.mit.edu	37	19	49490544	49490544	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49490544G>A	uc002plp.3	-	2	640	c.399C>T	c.(397-399)ctC>ctT	p.L133L	GYS1_uc010emm.3_Intron|GYS1_uc010xzz.2_Silent_p.L53L|GYS1_uc010yaa.1_Non-coding_Transcript	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	133					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		AGGTATCCCAGAGCTCTCCCT	0.637000														6			12		0	0	0.00136819	0	0
VAV1	7409	broad.mit.edu	37	19	6820766	6820766	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6820766C>T	uc002mfu.1	+	1	355	c.258C>T	c.(256-258)ttC>ttT	p.F86F	VAV1_uc010xjh.1_Silent_p.F86F|VAV1_uc010dva.1_Silent_p.F86F|VAV1_uc002mfv.1_Silent_p.F31F	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	86	CH.|Leu-rich.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAGAAGTTCGGCCTCAAGC	0.522000														76			51		0	0	0.000781405	0	0
MUC13	56667	broad.mit.edu	37	3	124630988	124630988	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:124630988C>T	uc003ehq.2	-	9	1251	c.1212_splice	c.e9-1	p.K404_splice		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	404						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CAAATGCACACCTGAAATACA	0.433000														21			10		0	0	0.000673444	0	0
ACAN	176	broad.mit.edu	37	15	89392722	89392722	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:89392722G>A	uc010upo.1	+	9	2160	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	ACAN_uc002bmx.3_Missense_Mutation_p.E596K|ACAN_uc010upp.1_Missense_Mutation_p.E596K|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	596					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAAGCACTGGAGTTCTGTGA	0.632000														12			6		0	0	8.12818e-05	0	0
OSCAR	126014	broad.mit.edu	37	19	54600243	54600243	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54600243G>A	uc002qdd.3	-	3	471	c.354C>T	c.(352-354)gcC>gcT	p.A118A	OSCAR_uc002qcy.3_Silent_p.A97A|OSCAR_uc002qcz.3_Silent_p.A93A|OSCAR_uc002qda.3_Silent_p.A97A|OSCAR_uc002qdb.3_Silent_p.A82A|OSCAR_uc010erc.3_Missense_Mutation_p.P61S|OSCAR_uc002qdc.3_Silent_p.A107A|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	93						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					TTCCCCCTTGGGCTGGAGTCA	0.602000														17			17		0	0	0.00074312	0	0
ODZ2	57451	broad.mit.edu	37	5	167674492	167674492	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:167674492G>A	uc010jjd.3	+	26	6521	c.6521G>A	c.(6520-6522)gGc>gAc	p.G2174D	ODZ2_uc003lzr.4_Missense_Mutation_p.G1944D|ODZ2_uc003lzt.4_Missense_Mutation_p.G1547D|ODZ2_uc010jje.3_Missense_Mutation_p.G1438D	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GACAGCATGGGCAGGGTGATC	0.557000														23			12		0	0	0.000978159	0	0
AOAH	313	broad.mit.edu	37	7	36552758	36552758	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:36552758C>T	uc022abu.1	-	22	2346	c.1945G>A	c.(1945-1947)Gga>Aga	p.G649R	AOAH_uc003tfh.4_3'UTR|AOAH_uc011kba.2_3'UTR	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	0					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAGAAGAGTCCTTTGGGCCTG	0.542000														19			10		0	0	0.000442599	0	0
MUC16	94025	broad.mit.edu	37	19	9067149	9067149	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9067149G>A	uc002mkp.3	-	2	20501	c.20297C>T	c.(20296-20298)tCg>tTg	p.S6766L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6768	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6766L(3)|p.S2399L(1)|p.S6766S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTCGCCATCGAGTGTGTTCC	0.483000														51			48		0	0	0.000781405	0	0
TYRO3	7301	broad.mit.edu	37	15	41870298	41870298	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:41870298G>A	uc001zof.2	+	18	2733	c.2497G>A	c.(2497-2499)Gat>Aat	p.D833N		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	833						integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGGGCTGGGGATGGCAGTGG	0.647000														20			8		0	0	0.000274275	0	0
OR10H5	284433	broad.mit.edu	37	19	15905710	15905710	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15905710C>T	uc010xos.2	+	0	852	c.852C>T	c.(850-852)ccC>ccT	p.P284P		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCCTCACACCCTTCCTCAGCC	0.527000														14			11		0	0	0.000308642	0	0
MYO1D	4642	broad.mit.edu	37	17	30821872	30821872	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:30821872T>A	uc002hho.1	-	21	2938	c.2926A>T	c.(2926-2928)Aag>Tag	p.K976*		NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	976						myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGGTGCACTTCTTCCCGTGC	0.612000														19			6		0	0	8.12818e-05	0	0
OR10S1	219873	broad.mit.edu	37	11	123847640	123847640	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:123847640G>A	uc001pzm.1	-	0	759	c.759C>T	c.(757-759)tcC>tcT	p.S253S		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGTGCAGGGGGAGAAGGCCC	0.632000														9			30		0	0	0.000339439	0	0
BBS1	582	broad.mit.edu	37	11	66288844	66288844	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:66288844G>A	uc001oii.1	+	8	1016	c.938G>A	c.(937-939)aGa>aAa	p.R313K	BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Intron|BBS1_uc010rpg.1_Missense_Mutation_p.R179K|BBS1_uc001oij.1_Missense_Mutation_p.R276K|BBS1_uc001oik.1_Missense_Mutation_p.R200K|ZDHHC24_uc009yrg.2_3'UTR|BBS1_uc010rph.1_5'Flank	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	276					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TATATTCTGAGAAGGTAGCCA	0.552000									Bardet-Biedl syndrome					32			20		0	0	0.000295444	0	0
MPP7	143098	broad.mit.edu	37	10	28409259	28409259	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:28409259C>T	uc001iua.1	-	11	1155	c.751G>A	c.(751-753)Gaa>Aaa	p.E251K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.E251K|MPP7_uc009xla.2_Missense_Mutation_p.E251K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	251	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AGCCCAGCTTCCTTACATGGA	0.383000														44			18		0	0	0.00152264	0	0
VWA7	80737	broad.mit.edu	37	6	31734488	31734488	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:31734488G>A	uc011dog.2	-	13	2174	c.1936C>T	c.(1936-1938)Cct>Tct	p.P646S	VWA7_uc003nxd.2_Missense_Mutation_p.P321S	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	646						extracellular region											GGATCCCCAGGATTGGCTCTG	0.617000														102			137		0	0	0.000781405	0	0
SLK	9748	broad.mit.edu	37	10	105727572	105727572	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:105727572C>A	uc001kxo.1	+	0	103	c.69C>A	c.(67-69)caC>caA	p.H23Q	SLK_uc001kxp.1_Missense_Mutation_p.H23Q	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	23					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGTACGAACACGTGAAGAGGG	0.483000														39			33		2.80507e-11	1.66752e-10	0.000409698	1	0
ATP10B	23120	broad.mit.edu	37	5	160067517	160067517	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:160067517G>A	uc003lym.1	-	9	1798	c.951C>T	c.(949-951)atC>atT	p.I317I	ATP10B_uc003lyp.2_Silent_p.I317I|ATP10B_uc011deg.1_Silent_p.I361I|ATP10B_uc003lyo.2_Silent_p.I289I	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	317					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)			TGCAGAAGAAGATGTCTATAT	0.473000														59			34		0	0	0.00111076	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986374	51986374	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:51986374C>T	uc002pwv.1	+	4	960	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	320	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTGCTATTCCTTCCTGGATC	0.522000														75			63		0	0	0.000781405	0	0
FHL5	9457	broad.mit.edu	37	6	97052706	97052706	+	Silent	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:97052706T>C	uc003pos.2	+	3	656	c.240T>C	c.(238-240)ccT>ccC	p.P80P	FHL5_uc003pot.2_Silent_p.P80P	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	80	LIM zinc-binding 1.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGGAAAAGCCTTTTGCTGCCA	0.488000														11			27		0	0	0.00178596	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55263104	55263104	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:55263104A>G	uc002qgx.3	+	5	756	c.719A>G	c.(718-720)aAc>aGc	p.N240S	KIR2DL1_uc010erw.1_Missense_Mutation_p.N240S|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	240					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTTCCAGGTAACCCCAGACAC	0.438000														81			30		0	0	0.000814825	0	0
NXN	64359	broad.mit.edu	37	17	704349	704349	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:704349C>T	uc002fsa.3	-	7	1228	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	NXN_uc010vqd.2_Missense_Mutation_p.R74Q|NXN_uc010vqe.2_Missense_Mutation_p.R275Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	383					Wnt receptor signaling pathway|cell differentiation|cell redox homeostasis|multicellular organismal development	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GGTGTAATCTCGCAGGGAGTC	0.587000														28			14		0	0	0.000566183	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187702055	187702055	+	Missense_Mutation	SNP	G	A	A	rs149540467	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:187702055G>A	uc002upu.1	-	4	761	c.721C>T	c.(721-723)Cca>Tca	p.P241S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	241					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCAATTGGAAACTGTTTG	0.358000														11			8		0	0	0.000442599	0	0
IL17RC	84818	broad.mit.edu	37	3	9969872	9969872	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:9969872C>T	uc003bua.3	+	9	1276	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	CIDEC_uc003bto.3_Intron|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.S257F|IL17RC_uc003btz.3_Missense_Mutation_p.S282F|IL17RC_uc011atp.2_Missense_Mutation_p.S138F|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.S282F|IL17RC_uc010hcu.3_Missense_Mutation_p.S282F|IL17RC_uc003bub.3_Missense_Mutation_p.S267F|IL17RC_uc010hcv.3_Missense_Mutation_p.S267F|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.S267F|IL17RC_uc003bue.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	353						integral to membrane|plasma membrane	receptor activity	p.S353S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAACCTGACTCCGTTAGGACG	0.647000														57			34		0	0	0.000692331	0	0
DSG4	147409	broad.mit.edu	37	18	28968435	28968435	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:28968435G>A	uc002kwr.2	+	3	457	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	DSG4_uc002kwq.2_Missense_Mutation_p.E108K	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	108	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCGCACTGGGGAAATTAACAT	0.398000														10			4		0	0	0.00024832	0	0
IFNA5	3442	broad.mit.edu	37	9	21304743	21304743	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:21304743G>A	uc011lnh.2	-	0	570	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.398000														23			64		0	0	0.000781405	0	0
ARID1A	8289	broad.mit.edu	37	1	27106861	27106861	+	Silent	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:27106861C>A	uc001bmv.1	+	19	6845	c.6472C>A	c.(6472-6474)Cga>Aga	p.R2158R	ARID1A_uc001bmu.1_Silent_p.R1941R|ARID1A_uc001bmx.1_Silent_p.R1004R|ARID1A_uc009vsm.1_Silent_p.R486R|ARID1A_uc009vsn.1_Silent_p.R400R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	2158					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R2158*(6)|p.D2157N(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCAGTGACCGAAAGAACCC	0.597000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									40			30		3.99451e-17	2.39047e-16	0.00178596	1	0
PRKCQ	5588	broad.mit.edu	37	10	6553059	6553059	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:6553059G>A	uc001iji.1	-	1	399	c.315C>T	c.(313-315)atC>atT	p.I105I	PRKCQ_uc001ijj.2_Silent_p.I72I|PRKCQ_uc009xim.2_Silent_p.I72I|PRKCQ_uc009xin.2_Silent_p.I36I|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	72	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTTCACAATGATCTGCATGA	0.483000														40			33		0	0	0.000491102	0	0
BRSK2	9024	broad.mit.edu	37	11	1432751	1432751	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:1432751G>A	uc001ltm.3	+	0	370	c.117G>A	c.(115-117)ggG>ggA	p.G39G	BRSK2_uc009ycv.1_Intron|BRSK2_uc001lth.1_Intron|BRSK2_uc001lti.3_Intron|BRSK2_uc001ltl.3_Intron|BRSK2_uc001ltj.3_Intron|BRSK2_uc001ltk.3_Intron	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	8	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GCAGGGGAGGGGCCGCACATC	0.701000														2			17		0	0	0.000566183	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20496691	20496691	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:20496691C>T	uc001ytf.1	+	5		c.744C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		TTGTGAACTCCATGGTTTGAA	0.423000														82			7		0	0	0.000274275	0	0
LANCL1	10314	broad.mit.edu	37	2	211302519	211302519	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:211302519G>A	uc010zjh.2	-	6	843	c.768C>T	c.(766-768)ttC>ttT	p.F256F	LANCL1_uc002ved.3_Silent_p.F256F|LANCL1_uc010fuq.3_Silent_p.F256F	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	256						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TGCCAGAAGGGAATTTCAGCT	0.478000														18			19		0	0	0.000958276	0	0
RNF10	9921	broad.mit.edu	37	12	121000873	121000873	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:121000873G>A	uc001typ.4	+	8	1737	c.1254_splice	c.e8+1	p.K418_splice	RNF10_uc010szk.2_Splice_Site|RNF10_uc001tyq.4_Splice_Site_p.K324_splice	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	418					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACCCAGGAAGGTTAGTGTGT	0.512000														9			49		0	0	0.000781405	0	0
KIF26B	55083	broad.mit.edu	37	1	245865885	245865885	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:245865885G>A	uc001ibf.1	+	14	6744	c.6304G>A	c.(6304-6306)Gac>Aac	p.D2102N		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2102					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACCTGCTTCGACATCACCTC	0.607000														32			57		0	0	0.000781405	0	0
ZNF667	63934	broad.mit.edu	37	19	56952992	56952992	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:56952992G>A	uc002qne.3	-	6	2163	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	ZNF667_uc010etl.3_Missense_Mutation_p.L240F|ZNF667_uc002qnd.3_Missense_Mutation_p.L458F|ZNF667_uc010etm.3_Missense_Mutation_p.L401F	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGTTCAATAAGAAATGATTGG	0.373000														31			22		0	0	0.000586117	0	0
BCMO1	53630	broad.mit.edu	37	16	81323952	81323952	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:81323952G>A	uc002fgn.1	+	11	1633	c.1415_splice	c.e11-1	p.G472_splice	BCMO1_uc010vnp.1_Splice_Site_p.G403_splice	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	472					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TTTCCCTAAAGGAGTAATCTT	0.438000														13			28		0	0	0.000409698	0	0
PAK7	57144	broad.mit.edu	37	20	9561479	9561479	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:9561479C>T	uc002wnl.2	-	4	848	c.303G>A	c.(301-303)agG>agA	p.R101R	PAK7_uc002wnk.2_Silent_p.R101R|PAK7_uc002wnj.2_Silent_p.R101R|PAK7_uc010gby.1_Silent_p.R101R	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	101	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCTTTCTTTCCTTAGGGAGT	0.532000														51			33		0	0	0.00178596	0	0
GOLGB1	2804	broad.mit.edu	37	3	121415004	121415004	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:121415004C>T	uc010hrc.3	-	12	4492	c.4366G>A	c.(4366-4368)Gat>Aat	p.D1456N	GOLGB1_uc003eei.4_Missense_Mutation_p.D1451N|GOLGB1_uc003eej.4_Missense_Mutation_p.D1417N|GOLGB1_uc021xcy.1_Missense_Mutation_p.D1376N|GOLGB1_uc011bjm.1_Missense_Mutation_p.D1337N|GOLGB1_uc010hrd.1_Missense_Mutation_p.D1415N	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1451					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATCCTCTCATCATGCTCTTTG	0.378000														59			41		0	0	0.000589545	0	0
OR5M1	390168	broad.mit.edu	37	11	56380880	56380880	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56380880C>T	uc001nja.1	-	0	99	c.99G>A	c.(97-99)gcG>gcA	p.A33A	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TTAGGTAGATCGCAAGGAATA	0.493000														17			14		0	0	0.000151284	0	0
FLG	2312	broad.mit.edu	37	1	152285957	152285957	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:152285957G>A	uc001ezu.1	-	2	1441	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	469	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGGTAGAGGGAAGACCCT	0.612000									Ichthyosis					120			53		0	0	0.000781405	0	0
MC3R	4159	broad.mit.edu	37	20	54824304	54824304	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:54824304C>T	uc002xxb.2	+	0	517	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	172					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCAACCTCCTGGCCATCG	0.562000														43			33		0	0	0.00058488	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906436	164906436	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:164906436G>A	uc003fej.4	-	1	2627	c.2183C>T	c.(2182-2184)tCc>tTc	p.S728F	SLITRK3_uc003fek.3_Missense_Mutation_p.S728F|SLITRK3_uc021xgy.1_Missense_Mutation_p.S728F	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	728						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCTGGAGAGGAAAGAGTTGG	0.572000										HNSCC(40;0.11)				25			13		0	0	0.000308642	0	0
LRP1B	53353	broad.mit.edu	37	2	141777598	141777598	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:141777598C>T	uc002tvj.1	-	11	2835	c.1863G>A	c.(1861-1863)agG>agA	p.R621R	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	621					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAATGGTTTTCCTATGGCCAT	0.418000										TSP Lung(27;0.18)				13			10		0	0	0.000673444	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247269	142247269	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142247269C>T	uc003vyd.4	-	1	212	c.187G>A	c.(187-189)Gag>Aag	p.E63K	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		ATTAGAAACTCTGGGCCCTGC	0.527000														22			31		0	0	0.000339439	0	0
MYOCD	93649	broad.mit.edu	37	17	12655875	12655875	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:12655875C>T	uc002gno.2	+	9	1569	c.1270C>T	c.(1270-1272)Cct>Tct	p.P424S	MYOCD_uc002gnn.2_Missense_Mutation_p.P424S|MYOCD_uc002gnp.1_Missense_Mutation_p.P328S|MYOCD_uc002gnq.2_Missense_Mutation_p.P143S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	424					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGTCACTTTTCCTGTCACACC	0.572000														42			39		0	0	0.000509022	0	0
SPINT2	10653	broad.mit.edu	37	19	38774365	38774365	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38774365G>A	uc002ohr.2	+	1	640	c.205G>A	c.(205-207)Ggg>Agg	p.G69R	SPINT2_uc002ohs.2_Intron	NM_021102	NP_066925	O43291	SPIT2_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA.	69	BPTI/Kunitz inhibitor 1.				cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GTTTGTGTATGGGGGCTGTGA	0.537000														56			44		0	0	0.000374591	0	0
SMYD1	150572	broad.mit.edu	37	2	88402614	88402614	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:88402614C>T	uc002ssr.3	+	6	1011	c.926C>T	c.(925-927)tCc>tTc	p.S309F	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.S5F	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ATACAATTCTCCAAGGATACA	0.458000														41			30		0	0	0.00058488	0	0
GPR112	139378	broad.mit.edu	37	X	135469904	135469904	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:135469904C>T	uc004ezu.1	+	15	8073	c.7782C>T	c.(7780-7782)ttC>ttT	p.F2594F	GPR112_uc010nsb.1_Silent_p.F2389F	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2594					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCAGATTTTCCTAGGCAATG	0.433000														8			13		0	0	0.000422831	0	0
SORBS2	8470	broad.mit.edu	37	4	186545620	186545620	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:186545620G>A	uc003iyg.3	-	12	1325	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.S417S|SORBS2_uc003iyl.3_Silent_p.S317S|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.S221S|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	317						Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R431C(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AACTGCAAAGGGATGGACATA	0.478000														39			29		0	0	0.000409698	0	0
CBLB	868	broad.mit.edu	37	3	105438891	105438891	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:105438891C>T	uc003dwc.3	-	10	1729	c.1407_splice	c.e10+1	p.K469_splice	CBLB_uc011bhi.2_Splice_Site_p.K491_splice|CBLB_uc003dwd.2_Splice_Site_p.K469_splice|CBLB_uc003dwe.2_Splice_Site_p.K469_splice|CBLB_uc011bhj.1_Splice_Site	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	469					NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTAGTTTTACCTTTCGGACGT	0.438000			Mis S		AML									8			10		0	0	0.000978159	0	0
GLRA1	2741	broad.mit.edu	37	5	151271933	151271933	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:151271933G>A	uc003lut.3	-	1	410	c.123C>T	c.(121-123)ttC>ttT	p.F41F	GLRA1_uc003lur.3_Silent_p.F41F|GLRA1_uc003lus.3_Intron	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	41					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTATCCAGGAAATCCGAGG	0.498000														27			20		0	0	0.00152264	0	0
FBF1	85302	broad.mit.edu	37	17	73924191	73924191	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73924191C>T	uc002jqc.3	-	6	595	c.321G>A	c.(319-321)ggG>ggA	p.G107G	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.G97G|FBF1_uc002jqd.1_Silent_p.G107G	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	107										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GCTCTCCTTTCCCAGGGTCCT	0.542000														29			45		0	0	0.000781405	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	159605601	159605602	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:159605601_159605602AG>TA	uc003fcq.2	+	7	1510_1511	c.1329_1330AG>TA	c.(1327-1332)gaagcc>gaTAcc	p.443_444EA>DT	IQCJ-SCHIP1_uc003fcr.2_Missense_Mutation_p.416_417EA>DT|IQCJ-SCHIP1_uc003fcs.2_Missense_Mutation_p.367_368EA>DT|IQCJ-SCHIP1_uc003fct.2_Missense_Mutation_p.354_355EA>DT|IQCJ-SCHIP1_uc021xgm.1_Missense_Mutation_p.135_136EA>DT|IQCJ-SCHIP1_uc010hvz.1_Missense_Mutation_p.327_328EA>DT|IQCJ-SCHIP1_uc003fcu.2_Missense_Mutation_p.124_125EA>DT	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	367						cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						TGCAAGCTGAAGCCAAAATGGC	0.446000														72			49		0	0	6.4e-05	0	0
CELSR3	1951	broad.mit.edu	37	3	48677117	48677117	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:48677117G>A	uc003cuf.1	-	35	10195	c.10195C>T	c.(10195-10197)Cca>Tca	p.P3399S	CELSR3_uc010hkf.3_Missense_Mutation_p.P591S|CELSR3_uc010hkg.3_Missense_Mutation_p.P1284S|CELSR3_uc003cul.3_Missense_Mutation_p.P3301S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3301					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCTGAGTCTGGCGACAGCTCC	0.607000														75			41		0	0	0.000374591	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060169	35060169	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:35060169G>A	uc002xff.3	+	2	484	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP4_uc010zvp.2_Missense_Mutation_p.D17N	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	17					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CGACAGCCTAGACCCACCCCA	0.721000														13			9		0	0	0.000673444	0	0
HCN1	348980	broad.mit.edu	37	5	45262086	45262086	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:45262086T>A	uc003jok.3	-	7	2635	c.2610A>T	c.(2608-2610)gaA>gaT	p.E870D		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	870						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGAGGAAGATTCTCTTGGAA	0.527000														71			58		0	0	0.000781405	0	0
GAS7	8522	broad.mit.edu	37	17	9850238	9850239	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:9850238_9850239GG>AA	uc002gmg.1	-	5	748_749	c.587_588CC>TT	c.(586-588)acc>aTT	p.T196I	GAS7_uc010vvc.1_Missense_Mutation_p.T10I|GAS7_uc002gmh.1_Missense_Mutation_p.T56I|GAS7_uc010vvd.1_Missense_Mutation_p.T148I|GAS7_uc002gmi.2_Missense_Mutation_p.T132I|GAS7_uc002gmj.1_Missense_Mutation_p.T136I|GAS7_uc010coh.1_Missense_Mutation_p.T136I	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	196	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	p.T196T(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCTCCACTCGGTTGGTTTCAG	0.584000			T	MLL	AML*									11			13		0	0	6.4e-05	0	0
C2orf16	84226	broad.mit.edu	37	2	27802577	27802578	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27802577_27802578GG>TA	uc002rkz.4	+	0	3189_3190	c.3138_3139GG>TA	c.(3136-3141)atggaa>atTAaa	p.1046_1047ME>IK		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1046								p.P1045Q(1)		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)					TTGTTCCAATGGAAGAAAGTGA	0.470000														55			40		0	0	6.4e-05	0	0
BHLHE22	27319	broad.mit.edu	37	8	65493514	65493514	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:65493514C>T	uc003xvi.3	+	0	720	c.167C>T	c.(166-168)tCc>tTc	p.S56F	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	56	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						CGCCCGGCGTCCTCCTCCTCG	0.761000														13			6		0	0	0.000157383	0	0
PCLO	27445	broad.mit.edu	37	7	82545171	82545171	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:82545171C>T	uc003uhx.2	-	6	12420	c.12131G>A	c.(12130-12132)cGa>cAa	p.R4044Q	PCLO_uc003uhv.2_Missense_Mutation_p.R4044Q|PCLO_uc010lec.3_Missense_Mutation_p.R1009Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3975					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R4044Q(3)		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						GACATAATTTCGTGGAGTATG	0.408000														5			7		0	0	8.12818e-05	0	0
DSC2	1824	broad.mit.edu	37	18	28671089	28671089	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:28671089T>C	uc002kwl.4	-	3	830	c.376A>G	c.(376-378)Aaa>Gaa	p.K126E	DSC2_uc002kwk.4_Missense_Mutation_p.K126E	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	126					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACTTTTTCTTTAGTATGTCTT	0.363000														14			10		0	0	0.00136819	0	0
NRXN1	9378	broad.mit.edu	37	2	50850507	50850507	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:50850507C>T	uc021vhh.1	-	4	2000	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	NRXN1_uc002rxb.4_Missense_Mutation_p.G40E|NRXN1_uc021vhg.1_Missense_Mutation_p.G393E|NRXN1_uc021vhi.1_Missense_Mutation_p.G389E|NRXN1_uc021vhj.1_Missense_Mutation_p.G356E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTAAACTTTCCATTCACAGG	0.458000														11			6		0	0	0.00116845	0	0
TNPO3	23534	broad.mit.edu	37	7	128641228	128641228	+	Missense_Mutation	SNP	G	A	A	rs11538883		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:128641228G>A	uc010lly.2	-	5	1160	c.757C>T	c.(757-759)Ctc>Ttc	p.L253F	TNPO3_uc003vol.2_Missense_Mutation_p.L253F|TNPO3_uc010llz.2_Missense_Mutation_p.L253F|TNPO3_uc003vom.2_Missense_Mutation_p.L187F	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	253					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATGGCATAGAGAGCTGAGCAT	0.488000														127			75		0	0	0.000781405	0	0
SAFB2	9667	broad.mit.edu	37	19	5591793	5591793	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:5591793G>A	uc002mcd.3	-	16	2572	c.2360C>T	c.(2359-2361)tCg>tTg	p.S787L		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	787	Arg-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CATTGGCCTCGAACCCTCCCG	0.567000														10			7		0	0	0.000157383	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171970	102171970	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:102171970G>A	uc003dvt.1	+	2	462	c.362G>A	c.(361-363)gGa>gAa	p.G121E	ZPLD1_uc003dvs.1_Missense_Mutation_p.G105E|ZPLD1_uc011bhg.1_Missense_Mutation_p.G105E	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	105	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGGGCTGTGGAAACAACCTG	0.443000														11			10		0	0	0.000151284	0	0
MYH6	4624	broad.mit.edu	37	14	23862632	23862632	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:23862632G>A	uc001wjv.3	-	22	3095	c.3024C>T	c.(3022-3024)gcC>gcT	p.A1008A		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1008					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGTCATCCAGGGCCTGCTGAT	0.517000														82			66		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179591859	179591859	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179591859G>A	uc021vsy.1	-	65	16726	c.16501C>T	c.(16501-16503)Ccc>Tcc	p.P5501S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2162S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6428	Ig-like 35.						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)			CTGCCAGCGGGATTCTGAGCC	0.428000														11			9		0	0	0.000673444	0	0
PHYH	5264	broad.mit.edu	37	10	13323103	13323103	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:13323103G>A	uc001imf.3	-	7	924	c.836C>T	c.(835-837)tCc>tTc	p.S279F	PHYH_uc001ime.3_Missense_Mutation_p.S179F	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	279					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GAAATGGCAGGAAATTGCCTG	0.403000														37			16		0	0	0.000958276	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204410671	204410671	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:204410671G>A	uc001haw.3	-	21	3656	c.3177C>T	c.(3175-3177)tcC>tcT	p.S1059S	PIK3C2B_uc010pqv.2_Silent_p.S1031S	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1059					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGACAGCATTGGAGTTGAAGT	0.502000														27			59		0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55541533	55541533	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:55541533G>A	uc003xsd.1	+	3	5239	c.5091G>A	c.(5089-5091)caG>caA	p.Q1697Q	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1697					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)			AGGAATTCCAGGAGGAAAGAC	0.403000														49			27		0	0	0.00127121	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644851	20644851	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:20644851C>T	uc001ytg.3	-	20	3116	c.2407G>A	c.(2407-2409)Gcg>Acg	p.A803T	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.A803T|HERC2P3_uc010tyy.2_Missense_Mutation_p.A803T					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.A803V(4)|p.R802K(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATGTCCCTCGCCCTTTCGGTC	0.458000														69			18		0	0	0.000375601	0	0
ADARB2	105	broad.mit.edu	37	10	1262904	1262904	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:1262904C>T	uc009xhq.3	-	6	1995	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	557	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCGATCTTGTCCGTGCAGGAC	0.687000														9			6		0	0	8.12818e-05	0	0
OR2F2	135948	broad.mit.edu	37	7	143633090	143633090	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143633090G>A	uc011ktv.2	+	0	765	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGGCACAACGATTTTCACTT	0.512000														43			26		0	0	0.00106085	0	0
TTN	7273	broad.mit.edu	37	2	179592048	179592048	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179592048C>T	uc021vsy.1	-	65	16537	c.16312G>A	c.(16312-16314)Ggt>Agt	p.G5438S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2099S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6365	Ig-like 35.						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)			GAAGAGTCACCTGCTTTCACA	0.403000														1			5		0	0	0.00116845	0	0
KIAA0090	23065	broad.mit.edu	37	1	19567577	19567578	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:19567577_19567578CC>TT	uc001bbo.3	-	5	611_612	c.568_569GG>AA	c.(568-570)gga>AAa	p.G190K	KIAA0090_uc001bbp.3_Missense_Mutation_p.G190K|KIAA0090_uc001bbq.3_Missense_Mutation_p.G190K|KIAA0090_uc001bbr.3_Missense_Mutation_p.G168K	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	190						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GGGAACAACTCCGAGGGCCCAC	0.510000											OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			31		0	0	6.4e-05	0	0
FIGLA	344018	broad.mit.edu	37	2	71012684	71012685	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:71012684_71012685GG>TT	uc002she.1	-	2	476_477	c.471_472CC>AA	c.(469-474)acccaa>acAAaa	p.Q158K		NM_001004311	NP_001004311	Q6QHK4	FIGLA_HUMAN	Homo sapiens folliculogenesis specific basic helix-loop-helix (FIGLA), mRNA.	158					multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcription factor complex	DNA binding|transcription factor binding			endometrium(2)|lung(3)	5						CTGATATGTTGGGTGATGTTTC	0.485000														374			12		0	0	6.4e-05	0	0
GP5	2814	broad.mit.edu	37	3	194118498	194118498	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:194118498G>A	uc003ftv.1	-	1	545	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	GP5_uc021xiz.1_Silent_p.L172L	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	172					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AACAACTTCAGGTTCTCCAGA	0.512000														43			27		0	0	0.000720815	0	0
MYOM3	127294	broad.mit.edu	37	1	24383924	24383924	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:24383924G>A	uc001bin.4	-	36	4407	c.4244C>T	c.(4243-4245)tCc>tTc	p.S1415F	MYOM3_uc001bil.4_Missense_Mutation_p.S308F|MYOM3_uc001bim.4_Missense_Mutation_p.S1072F	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1415	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCCCGTCTCGGAGCCATACTT	0.572000														28			18		0	0	0.00152264	0	0
PLD5	200150	broad.mit.edu	37	1	242287898	242287898	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:242287898G>A	uc001hzn.2	-	6	1032	c.805C>T	c.(805-807)Cta>Tta	p.L269L	PLD5_uc021pll.1_Silent_p.L177L|PLD5_uc001hzl.4_Silent_p.L207L|PLD5_uc001hzm.4_Silent_p.L61L|PLD5_uc001hzo.2_Silent_p.L177L	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	269						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GAACTATATAGAGCAAATATC	0.368000														49			18		0	0	0.00121646	0	0
ATG2B	55102	broad.mit.edu	37	14	96797765	96797765	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:96797765A>T	uc001yfi.3	-	10	2043	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	560										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAAGACTTAAAATCTTCTGTT	0.378000														45			19		0	0	0.00074312	0	0
TMEM101	84336	broad.mit.edu	37	17	42089457	42089457	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:42089457G>A	uc002ieu.3	-	3	638	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	TMEM101_uc010wis.2_Nonsense_Mutation_p.Q147*	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	Homo sapiens transmembrane protein 101 (TMEM101), mRNA.	205					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCCAGGATCTGGGCAGCGAGG	0.567000														30			22		0	0	0.000375601	0	0
SLC22A10	387775	broad.mit.edu	37	11	63071643	63071643	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:63071643C>T	uc009yor.3	+	7	1557	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.P244S	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	450						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTACTTTTTCCAGTGTTGCT	0.463000														59			45		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	2	90077822	90077822	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:90077822C>T	uc010yts.2	+	22		c.2625C>T								Parts of antibodies, mostly variable regions.																		ACTCTGGCTCCCAGGTGAGGG	0.517000														55			25		0	0	0.00178596	0	0
MYH7	4625	broad.mit.edu	37	14	23886133	23886133	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:23886133G>A	uc001wjx.3	-	32	4694	c.4588C>T	c.(4588-4590)Cga>Tga	p.R1530*		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1530					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGCTGCTTTCGGACCTTCTCC	0.602000														38			34		0	0	0.00058488	0	0
MGAM	8972	broad.mit.edu	37	7	141740634	141740634	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:141740634C>T	uc003vwy.3	+	20	2540	c.2486C>T	c.(2485-2487)aCc>aTc	p.T829I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	829	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCAAATACAACCACTCTGGCC	0.463000														9			5		0	0	0.000157383	0	0
ARMCX5	64860	broad.mit.edu	37	X	101858025	101858025	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:101858025T>C	uc022cbb.1	+	0	956	c.956T>C	c.(955-957)cTt>cCt	p.L319P	ARMCX5_uc004ejg.3_Missense_Mutation_p.L319P|ARMCX5_uc022caw.1_Missense_Mutation_p.L319P|ARMCX5_uc022cax.1_Missense_Mutation_p.L319P|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.L319P|ARMCX5_uc022cba.1_Missense_Mutation_p.L319P|ARMCX5_uc004ejh.3_Missense_Mutation_p.L319P	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	319							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGCCCTCCTTAAGTTAACT	0.398000														2			19		0	0	0.000958276	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644400	18644400	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:18644400G>A	uc001rdt.3	+	18	2694	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E901K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E679K	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	860					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACTGAAGAAAGAAATTGGCAG	0.328000														9			67		0	0	0.000781405	0	0
SRGAP3	9901	broad.mit.edu	37	3	9094804	9094804	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:9094804G>A	uc003brf.1	-	8	1906	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	SRGAP3_uc003brg.1_Silent_p.S410S|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brj.1_Silent_p.S270S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	410					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGACTTGACGGACTCTGTCG	0.488000			T	RAF1	pilocytic astrocytoma									30			30		0	0	0.00058488	0	0
SPDYC	387778	broad.mit.edu	37	11	64938873	64938874	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64938873_64938874CC>TT	uc010rnz.2	+	1	102_103	c.102_103CC>TT	c.(100-105)acccag>acTTag	p.Q35*		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	35					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TAGTTACCACCCAGGTAGAGCT	0.604000														50			30		0	0	6.4e-05	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900428	151900428	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:151900428G>A	uc022chj.1	-	0	373	c.373C>T	c.(373-375)Cga>Tga	p.R125*	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Nonsense_Mutation_p.R125*|MAGEA12_uc022chi.1_Nonsense_Mutation_p.R125*|MAGEA12_uc004fgc.3_Nonsense_Mutation_p.R125*|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	125	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCCCTGGCTCGATACTTGAGG	0.498000														12			52		0	0	0.000781405	0	0
LRFN5	145581	broad.mit.edu	37	14	42356439	42356439	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:42356439C>T	uc001wvm.3	+	2	1809	c.611C>T	c.(610-612)tCa>tTa	p.S204L	LRFN5_uc010ana.3_Missense_Mutation_p.S204L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	204						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATGTGACATCAAATAAATTG	0.418000										HNSCC(30;0.082)				20			15		0	0	0.000219431	0	0
ASNA1	439	broad.mit.edu	37	19	12848457	12848457	+	Silent	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:12848457T>G	uc002muv.3	+	0	152	c.138T>G	c.(136-138)ggT>ggG	p.G46G	C19orf43_uc002muu.3_5'Flank	NM_004317	NP_004308	O43681	ASNA_HUMAN	Homo sapiens arsA arsenite transporter, ATP-binding, homolog 1 (bacterial) (ASNA1), mRNA.	46					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	ATP binding|arsenite-transporting ATPase activity|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	GGGGCAAGGGTGGTGTGGGCA	0.612000														19			11		0	0	0.000978159	0	0
CYP17A1	1586	broad.mit.edu	37	10	104590597	104590597	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:104590597G>A	uc001kwg.3	-	7	1561	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	WBP1L_uc009xxg.1_Non-coding_Transcript	NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	463					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity	p.R462W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	CCTCCAGGTCGAACCTCTGCA	0.577000														5			4		0	0	0.00024832	0	0
ZHX2	22882	broad.mit.edu	37	8	123965271	123965271	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:123965271C>T	uc022bag.1	+	0	1521	c.1521C>T	c.(1519-1521)gcC>gcT	p.A507A	ZHX2_uc003ypk.1_Silent_p.A507A	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	507						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AATCCCTTGCCAAAGACCAGT	0.567000														15			10		0	0	0.000442599	0	0
ATP1A3	478	broad.mit.edu	37	19	42474413	42474413	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:42474413C>T	uc002osh.3	-	17	2620	c.2466G>A	c.(2464-2466)atG>atA	p.M822I	ATP1A3_uc010xwf.2_Missense_Mutation_p.M833I|ATP1A3_uc010xwg.2_Missense_Mutation_p.M792I|ATP1A3_uc002osg.3_Missense_Mutation_p.M822I|ATP1A3_uc010xwh.2_Missense_Mutation_p.M835I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	822					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCTGTCTCTTCATGATGTCGC	0.627000														18			20		0	0	0.000229342	0	0
NPC1L1	29881	broad.mit.edu	37	7	44576027	44576027	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:44576027C>T	uc003tlb.3	-	4	1738	c.1682_splice	c.e4-1	p.G561_splice	NPC1L1_uc011kbw.2_Splice_Site_p.G561_splice|NPC1L1_uc003tlc.3_Splice_Site_p.G561_splice|NPC1L1_uc003tld.3_Splice_Site_p.G561_splice	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	561					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATAGTCCTTTCCTGGGATAAG	0.602000														37			36		0	0	0.00111076	0	0
RP1L1	94137	broad.mit.edu	37	8	10465954	10465954	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:10465954G>A	uc003wtc.3	-	3	5883	c.5654C>T	c.(5653-5655)cCa>cTa	p.P1885L		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1885					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCTGACTCTGGCTGGGCCTC	0.627000														72			66		0	0	0.000781405	0	0
SREBF1	6720	broad.mit.edu	37	17	17721087	17721087	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:17721087G>A	uc002gru.2	-	6	1521	c.1327C>T	c.(1327-1329)Ctt>Ttt	p.L443F	SREBF1_uc002grp.2_Silent_p.P12P|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.L189F|SREBF1_uc002grs.2_Missense_Mutation_p.L419F|SREBF1_uc002grt.2_Missense_Mutation_p.L473F|SREBF1_uc010cpp.1_Missense_Mutation_p.L419F|SREBF1_uc010cpq.1_Missense_Mutation_p.L443F	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	443	Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGCTGCCAAGGGACAAGGGG	0.652000														35			27		0	0	0.001512	0	0
OR14J1	442191	broad.mit.edu	37	6	29275391	29275391	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29275391C>T	uc011dln.2	+	0	925	c.925C>T	c.(925-927)Cct>Tct	p.P309S		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						GGAAGAGCTTCCTCAGAGAAA	0.388000														26			33		0	0	0.000339439	0	0
CAMKV	79012	broad.mit.edu	37	3	49898401	49898401	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:49898401C>T	uc003cxt.1	-	6	806	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	CAMKV_uc011bcy.1_Missense_Mutation_p.A130T|CAMKV_uc003cxv.1_Intron|CAMKV_uc003cxw.1_Missense_Mutation_p.A37T|CAMKV_uc003cxx.1_Missense_Mutation_p.A37T|CAMKV_uc003cxu.2_Missense_Mutation_p.A205T|CAMKV_uc011bcz.1_Missense_Mutation_p.A168T|CAMKV_uc011bda.1_Missense_Mutation_p.A162T|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	205	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACTCCAATGGCCCAGCAGTCC	0.592000														23			22		0	0	0.000878237	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156917573	156917573	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:156917573C>T	uc001fqo.3	-	23	3249	c.2209G>A	c.(2209-2211)Gag>Aag	p.E737K	ARHGEF11_uc010phu.2_Missense_Mutation_p.E153K|ARHGEF11_uc001fqn.3_Missense_Mutation_p.E777K	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	737	DH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGATGACCTCTTGCCGGTCA	0.572000														23			33		0	0	0.000692331	0	0
SPINK5	11005	broad.mit.edu	37	5	147486600	147486600	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:147486600G>A	uc003lox.2	+	17	1553	c.1480_splice	c.e17-1	p.E494_splice	SPINK5_uc010jgs.1_Splice_Site_p.E466_splice|SPINK5_uc010jgr.2_Splice_Site_p.E475_splice|SPINK5_uc003low.2_Splice_Site_p.E494_splice|SPINK5_uc003loy.2_Splice_Site_p.E494_splice	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	494	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTCCCAGGAAATCTGCAG	0.393000														14			12		0	0	0.000151284	0	0
STXBP5L	9515	broad.mit.edu	37	3	120957838	120957838	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:120957838C>T	uc003eec.4	+	12	1345	c.1205C>T	c.(1204-1206)cCa>cTa	p.P402L	STXBP5L_uc011bji.2_Missense_Mutation_p.P402L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	402					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTGAAAATCCATATCCCATG	0.313000														12			9		0	0	0.000673444	0	0
BANP	54971	broad.mit.edu	37	16	88039697	88039697	+	Splice_Site	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:88039697G>T	uc002fkr.3	+	6	677	c.456_splice	c.e6-1	p.N152_splice	BANP_uc010vov.2_Splice_Site_p.C127_splice|BANP_uc002fkq.3_Splice_Site_p.C121_splice|BANP_uc002fks.4_Splice_Site_p.C121_splice|BANP_uc002fkp.3_Splice_Site_p.C121_splice|BANP_uc010vow.2_Splice_Site_p.N160_splice|BANP_uc021tml.1_Splice_Site_p.N160_splice|BANP_uc002fko.1_Splice_Site_p.N57_splice	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	152	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCGTTTAGCGCTGTGCCTGG	0.592000														10			31		1.30293e-26	7.82052e-26	0.00058488	1	0
SCAMP1	9522	broad.mit.edu	37	5	77755108	77755108	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:77755108C>T	uc003kfl.3	+	8	929	c.772C>T	c.(772-774)Cct>Tct	p.P258S	SCAMP1_uc010jaa.3_Non-coding_Transcript|SCAMP1_uc011ctc.2_Non-coding_Transcript|SCAMP1_uc011ctd.2_Non-coding_Transcript|SCAMP1_uc003kfm.3_Non-coding_Transcript|SCAMP1_uc003kfn.3_5'UTR	NM_004866	NP_004857	O15126	SCAM1_HUMAN	Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA.	259					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		CCAAAATATTCCTGTTGGAAT	0.308000														12			11		0	0	0.000422831	0	0
APOB	338	broad.mit.edu	37	2	21232326	21232326	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:21232326C>T	uc002red.3	-	25	7542	c.7414G>A	c.(7414-7416)Gaa>Aaa	p.E2472K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2472					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCTTGGTTTCCTCTAAAAAC	0.408000														253			168		0	0	0.000781405	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767715	143767716	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:143767715_143767716CC>AT	uc001ejt.3	-	0	166_167	c.133_134GG>AT	c.(133-135)gga>ATa	p.G45I		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	45	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ATAACGAAATCCTTTCTCTCCA	0.490000														193			9		0	0	6.4e-05	0	0
DEGS2	123099	broad.mit.edu	37	14	100613156	100613156	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:100613156G>A	uc001ygx.2	-	2	1002	c.914C>T	c.(913-915)tCc>tTc	p.S305F		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 2 (DEGS2), mRNA.	305					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGGCCCCAGGGAGTCCTCAAA	0.622000														38			28		0	0	0.001512	0	0
C14orf39	317761	broad.mit.edu	37	14	60923639	60923639	+	Missense_Mutation	SNP	C	T	T	rs147627198		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:60923639C>T	uc001xez.4	-	14	1464	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	C14orf39_uc010apo.3_Missense_Mutation_p.E163K	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	452								p.E452K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCCTACATTTCGAACGGGGGG	0.318000														29			20		0	0	0.00121646	0	0
MFNG	4242	broad.mit.edu	37	22	37872944	37872944	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:37872944G>A	uc003ass.2	-	4	900	c.637C>T	c.(637-639)Ccg>Tcg	p.P213S	MFNG_uc011anj.2_Missense_Mutation_p.P199S|MFNG_uc011ani.2_Missense_Mutation_p.P91S	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	213					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CTGGCCCACGGAGCCATCTTC	0.622000														24			15		0	0	0.000958276	0	0
CYP2C19	1557	broad.mit.edu	37	10	96480210	96480210	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:96480210G>A	uc001kjv.4	+	5	1203	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C19_uc001kjw.4_Missense_Mutation_p.D234N|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	293					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.A292P(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CACTGTAACTGATATGTTTGG	0.398000														7			6		0	0	0.00116845	0	0
L1TD1	54596	broad.mit.edu	37	1	62675616	62675616	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:62675616G>A	uc021ooc.1	+	4	1605	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	L1TD1_uc001dae.4_Silent_p.E390E	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	390	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGGATGAAGAGGCCTCAGGGA	0.493000														56			41		0	0	0.00148497	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039448	55039448	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:55039448G>A	uc003pcl.3	+	0	378	c.63G>A	c.(61-63)ctG>ctA	p.L21L	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	21					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTTCGGAGCTGAATGAAACTC	0.537000														81			27		0	0	0.000339439	0	0
NBEAL1	65065	broad.mit.edu	37	2	204066299	204066300	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:204066299_204066300CG>AT	uc002uzt.3	+	48	7518_7519	c.7185_7186CG>AT	c.(7183-7188)cccggg>ccATgg	p.G2396W	NBEAL1_uc021vvj.1_Missense_Mutation_p.G1030W	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2396							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTTTTGCTCCCGGGCTAGAGAT	0.376000														481			13		0	0	6.4e-05	0	0
ZMYM4	9202	broad.mit.edu	37	1	35881161	35881161	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:35881161C>T	uc001byt.3	+	27	4235	c.4155C>T	c.(4153-4155)ttC>ttT	p.F1385F	ZMYM4_uc009vuu.3_Silent_p.F1353F|ZMYM4_uc001byu.3_Silent_p.F1061F|ZMYM4_uc009vuv.3_Silent_p.F1124F	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1385					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTCCTTTTCTTCAATACCA	0.448000														44			22		0	0	0.000375601	0	0
SETBP1	26040	broad.mit.edu	37	18	42530559	42530559	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:42530559G>A	uc010dni.3	+	3	1550	c.1254G>A	c.(1252-1254)agG>agA	p.R418R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	418						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCATAAGAGGAAAAAAAGAC	0.453000									Schinzel-Giedion syndrome					41			26		0	0	0.00106085	0	0
OR4K17	390436	broad.mit.edu	37	14	20586390	20586390	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20586390C>T	uc001vwo.1	+	0	825	c.825C>T	c.(823-825)atC>atT	p.I275I		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGCTCACATCACAGTGGTGA	0.428000														11			9		0	0	0.000442599	0	0
DNAH1	25981	broad.mit.edu	37	3	52433001	52433001	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52433001G>A	uc011bef.2	+	75	12486	c.12225G>A	c.(12223-12225)tgG>tgA	p.W4075*	DNAH1_uc003ddv.3_Nonsense_Mutation_p.W933*	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4140					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGAGCTCTGGAGTGCCAAGG	0.567000														29			29		0	0	0.000878237	0	0
GABRQ	55879	broad.mit.edu	37	X	151818284	151818284	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:151818284C>T	uc004ffp.1	+	5	710	c.690C>T	c.(688-690)atC>atT	p.I230I		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	230						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGCATATCCCTCAGTTCA	0.488000														5			50		0	0	0.000781405	0	0
SNRNP48	154007	broad.mit.edu	37	6	7594068	7594068	+	Silent	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:7594068C>A	uc003mxr.3	+	1	317	c.258C>A	c.(256-258)acC>acA	p.T86T	SNRNP48_uc003mxs.3_Non-coding_Transcript	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	86					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGCTATACCAAAGAAGAAG	0.323000														152			7		0.000157383	0.000923996	0.000157383	1	0
P4HA2	8974	broad.mit.edu	37	5	131546162	131546162	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:131546162G>A	uc003kwh.3	-	5	1088	c.524C>T	c.(523-525)tCg>tTg	p.S175L	P4HA2_uc003kwg.3_Missense_Mutation_p.S175L|P4HA2_uc003kwi.3_Missense_Mutation_p.S175L|P4HA2_uc003kwk.3_Missense_Mutation_p.S175L|P4HA2_uc003kwl.3_Missense_Mutation_p.S175L|P4HA2_uc003kwj.3_Missense_Mutation_p.S175L	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	175						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.R174C(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATTGTAGGCCGAGCGGCCCAT	0.537000														129			117		0	0	0.000781405	0	0
BIRC3	330	broad.mit.edu	37	11	102207520	102207520	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:102207520G>A	uc001pgx.3	+	7	4404	c.1609G>A	c.(1609-1611)Gaa>Aaa	p.E537K		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	537					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.T536R(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TATTCCCACAGAAGATGTTTC	0.269000			T	MALT1	MALT									34			26		0	0	0.001512	0	0
RBP3	5949	broad.mit.edu	37	10	48387869	48387869	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:48387869G>A	uc001jez.3	-	0	3123	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	1003	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			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)	CATTCTCAGGGATATGGGCTG	0.602000														45			44		0	0	0.000509022	0	0
SYTL1	84958	broad.mit.edu	37	1	27679914	27679915	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:27679914_27679915CC>TT	uc001bnw.2	+	13	1681_1682	c.1484_1485CC>TT	c.(1483-1485)tcc>tTT	p.S495F	SYTL1_uc001bnv.2_Missense_Mutation_p.S483F|SYTL1_uc009vsv.2_Missense_Mutation_p.S495F	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	495	C2 2.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGAGCTCTCCCTCTGGGACC	0.658000														17			16		0	0	6.4e-05	0	0
GPR108	56927	broad.mit.edu	37	19	6733031	6733031	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6733031G>A	uc002mfp.3	-	9	946	c.900C>T	c.(898-900)gcC>gcT	p.A300A	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	300						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCTTGGTGAAGGCCAAGGCCG	0.637000														7			3		0	0	6.4e-05	0	0
ROR2	4920	broad.mit.edu	37	9	94488955	94488955	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:94488955G>A	uc004arj.2	-	7	1453	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	ROR2_uc004ari.1_Silent_p.I278I|ROR2_uc004ark.3_Missense_Mutation_p.S407L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	418					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AAAGGCAAGCGATGACCAGTG	0.537000														9			26		0	0	0.00106085	0	0
MUC6	4588	broad.mit.edu	37	11	1017853	1017853	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:1017853T>C	uc001lsw.2	-	30	4999	c.4948A>G	c.(4948-4950)Aca>Gca	p.T1650A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1650	Approximate repeats.|Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCGTGCCTGTTGGCATTGAG	0.582000														500			17		0	0	0.00127121	0	0
ADRBK1	156	broad.mit.edu	37	11	67047159	67047159	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:67047159G>A	uc009yrn.1	+	4	695	c.429G>A	c.(427-429)ccG>ccA	p.P143P		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	143	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGGTGCCTCCGGATCTCTTCC	0.637000														23			18		0	0	0.00074312	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130396	71130396	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:71130396G>A	uc003tvy.3	+	7	1081	c.1081_splice	c.e7-1	p.V361_splice	WBSCR17_uc003tvz.3_Splice_Site_p.V60_splice	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	361	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V361L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTACCCCTAGGTATGGCTCTG	0.502000														52			47		0	0	0.000781405	0	0
HRNR	388697	broad.mit.edu	37	1	152190972	152190973	+	Missense_Mutation	DNP	CG	AT	AT	rs150311804		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:152190972_152190973CG>AT	uc001ezt.1	-	2	3208_3209	c.3132_3133CG>AT	c.(3130-3135)tccggt>tcATgt	p.G1045C		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1045					keratinization		calcium ion binding|protein binding	p.S1044S(2)|p.G1045S(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGAGTGACCGGAGCCAGACT	0.579000														289			7		0	0	6.4e-05	0	0
ERC2	26059	broad.mit.edu	37	3	56468558	56468558	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:56468558C>T	uc021wzo.1	-	0	618	c.478G>A	c.(478-480)Gag>Aag	p.E160K	ERC2_uc003dhr.1_Missense_Mutation_p.E160K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	160						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		AGGTCATTCTCTCTCTGCAGT	0.483000														100			80		0	0	0.000781405	0	0
ATP2C2	9914	broad.mit.edu	37	16	84474536	84474536	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:84474536C>T	uc010chj.3	+	13	1372	c.1283C>T	c.(1282-1284)tCc>tTc	p.S428F	ATP2C2_uc002fhx.3_Missense_Mutation_p.S428F|ATP2C2_uc002fhy.3_Missense_Mutation_p.S445F|ATP2C2_uc002fhz.3_Missense_Mutation_p.S277F	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	428					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AAGGAATTTTCCAATGTCTCA	0.498000														12			28		0	0	0.001512	0	0
CD2AP	23607	broad.mit.edu	37	6	47541941	47541942	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47541941_47541942GG>AA	uc003oyw.3	+	5	1139_1140	c.683_684GG>AA	c.(682-684)cgg>cAA	p.R228Q		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	228					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTGAAACTTCGGACAAGAACAT	0.376000														43			59		0	0	6.4e-05	0	0
MKL1	57591	broad.mit.edu	37	22	40827438	40827438	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:40827438G>A	uc003ayv.1	-	2	317	c.110C>T	c.(109-111)tCg>tTg	p.S37L	MKL1_uc010gyf.1_Missense_Mutation_p.S37L|MKL1_uc003ayw.1_Missense_Mutation_p.S37L|MKL1_uc010gye.1_Missense_Mutation_p.S37L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	37	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GACCAGCTCCGATCTCTCCGG	0.473000			T	RBM15	acute megakaryocytic leukemia									131			100		0	0	0.000781405	0	0
AK310228	0	broad.mit.edu	37	16	16468240	16468240	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:16468240G>A	uc002dey.2	+	4	1158	c.871G>A	c.(871-873)Ggg>Agg	p.G291R						SubName: Full=cDNA FLJ42525 fis, clone BRACE3001391, highly similar to Polycystin;																		CATGCTGTATGGGGTGGACAG	0.667000														50			14		0	0	0.00152264	0	0
ODZ3	55714	broad.mit.edu	37	4	183600989	183600989	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:183600989G>A	uc003ivd.1	+	6	1572	c.1497G>A	c.(1495-1497)ggG>ggA	p.G499G	ODZ3_uc003ive.1_5'Flank	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	499					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ATAATGATGGGAAAAATGCAG	0.448000														16			9		0	0	0.000274275	0	0
GPATCH1	55094	broad.mit.edu	37	19	33579109	33579109	+	Missense_Mutation	SNP	G	A	A	rs150368616	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:33579109G>A	uc002nug.1	+	1	457	c.143G>A	c.(142-144)cGa>cAa	p.R48Q		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	48						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGTATAAACGATTCCACGGG	0.348000														55			39		0	0	0.00148497	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31813034	31813034	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:31813034G>A	uc002yod.3	+	0	389	c.389G>A	c.(388-390)aGg>aAg	p.R130K		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	130						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TTTTCATCCAGGAATTTCCAG	0.453000														89			40		0	0	0.000781405	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102493981	102493982	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:102493981_102493982GG>AA	uc003kod.4	+	14	2098_2099	c.1579_1580GG>AA	c.(1579-1581)gga>AAa	p.G527K	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.G527K|PPIP5K2_uc010jbo.2_Missense_Mutation_p.G449K	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	527					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGAAGAACTTGGAAGAGCCTTC	0.386000														15			7		0	0	6.4e-05	0	0
FGF21	26291	broad.mit.edu	37	19	49261309	49261309	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49261309G>A	uc002pkn.1	+	3	1034	c.462G>A	c.(460-462)cgG>cgA	p.R154R	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.R154R	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	154					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCCCACACCGGGACCCTGCAC	0.682000														28			17		0	0	0.000422831	0	0
MCM6	4175	broad.mit.edu	37	2	136614338	136614338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:136614338C>T	uc002tuw.3	-	10	1662	c.1586G>A	c.(1585-1587)cGa>cAa	p.R529Q		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	529	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GAGATCGAATCGGGACATGAT	0.423000														35			28		0	0	0.000878237	0	0
QSOX1	5768	broad.mit.edu	37	1	180165989	180165989	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:180165989G>A	uc001gnz.3	+	11	2136	c.2061G>A	c.(2059-2061)gaG>gaA	p.E687E	QSOX1_uc001gny.3_Intron|FLJ23867_uc001god.4_5'Flank	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	687					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCCAGCTGGAGGCCCGAGCTG	0.667000														32			57		0	0	0.000781405	0	0
DDAH1	23576	broad.mit.edu	37	1	85817207	85817207	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:85817207G>A	uc001dlb.3	-	2	620	c.459C>T	c.(457-459)atC>atT	p.I153I	DDAH1_uc001dlc.3_Silent_p.I50I|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Silent_p.I53I|DDAH1_uc009wco.3_Silent_p.I50I	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	153					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TATCAGCCAAGATTTCAGCAC	0.383000														44			26		0	0	0.00178596	0	0
OR5D13	390142	broad.mit.edu	37	11	55541558	55541558	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55541558C>T	uc010ril.2	+	0	645	c.645C>T	c.(643-645)atC>atT	p.I215I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCCTAATTATCATTCTGACAT	0.438000														19			8		0	0	0.000442599	0	0
IGFN1	91156	broad.mit.edu	37	1	201184788	201184788	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:201184788G>A	uc001gwc.3	+	14	9247	c.9117G>A	c.(9115-9117)tgG>tgA	p.W3039*	IGFN1_uc001gwb.3_Intron	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGGCTGCCTGGAGGAAGGACG	0.637000														29			12		0	0	0.000308642	0	0
KANK4	163782	broad.mit.edu	37	1	62739384	62739384	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:62739384C>T	uc001dah.4	-	2	1769	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	464										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGCTCTGATTCCCTTGTTTAT	0.567000														62			49		0	0	0.000781405	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026412	129026412	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:129026412G>A	uc002tpt.4	-	1	594	c.560C>T	c.(559-561)cCc>cTc	p.P187L		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	187	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCGGGACACGGGGTCTCGTAG	0.632000														23			19		0	0	0.00121646	0	0
PIWIL4	143689	broad.mit.edu	37	11	94300761	94300761	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:94300761C>T	uc001pfa.3	+	0	288	c.77C>T	c.(76-78)gCc>gTc	p.A26V	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_Intron	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	26					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CGCATCCAAGCCTCGCCATTG	0.572000														9			12		0	0	0.000151284	0	0
CENPF	1063	broad.mit.edu	37	1	214791977	214791977	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:214791977C>T	uc001hkm.3	+	3	595	c.421C>T	c.(421-423)Cca>Tca	p.P141S		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	141	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCTCTGAATCCATGCAATAC	0.388000														64			65		0	0	0.000781405	0	0
TTC7A	57217	broad.mit.edu	37	2	47300885	47300885	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:47300885G>A	uc010fbb.3	+	20	2840	c.2472G>A	c.(2470-2472)aaG>aaA	p.K824K	TTC7A_uc002rvm.3_Silent_p.K766K|TTC7A_uc002rvo.3_Silent_p.K800K|TTC7A_uc010fbc.3_Silent_p.K446K|TTC7A_uc002rvp.3_Silent_p.K681K|C2orf61_uc010fbd.3_Intron|TTC7A_uc002rvq.3_Silent_p.K540K|TTC7A_uc002rvr.3_Silent_p.K249K	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	800							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGGCCCAGAAGGTGCTTCGTG	0.652000														46			28		0	0	0.000339439	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806869	97806869	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:97806869C>T	uc011bgs.2	+	0	853	c.853C>T	c.(853-855)Ccc>Tcc	p.P285S		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I284F(1)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						GATTATAATTCCCCTGCTAAA	0.373000														15			12		0	0	0.000978159	0	0
KRT9	3857	broad.mit.edu	37	17	39724455	39724455	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39724455G>A	uc002hxe.4	-	5	1419	c.1353C>T	c.(1351-1353)atC>atT	p.I451I	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	451	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				GGTAGGTCTCGATTTCCTTCT	0.552000														39			21		0	0	0.00047179	0	0
ABCA6	23460	broad.mit.edu	37	17	67096943	67096943	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:67096943G>A	uc002jhw.1	-	21	3182	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	MIR4524A_uc021ucg.1_5'Flank	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1003					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTTACAAGAGGAAATGGGCTT	0.318000														12			27		0	0	0.001512	0	0
DNAH5	1767	broad.mit.edu	37	5	13753464	13753464	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:13753464C>T	uc003jfd.2	-	62	10792	c.10750G>A	c.(10750-10752)Gat>Aat	p.D3584N	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3584	AAA 5 (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)					GACAAGTCATCATTTGGCAGA	0.388000									Kartagener syndrome					29			12		0	0	0.000978159	0	0
USP8	9101	broad.mit.edu	37	15	50791221	50791221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:50791221C>T	uc001zym.4	+	20	3793	c.3293C>T	c.(3292-3294)tCt>tTt	p.S1098F	USP8_uc001zyl.4_Missense_Mutation_p.S1098F|USP8_uc001zyn.4_Missense_Mutation_p.S1098F|USP8_uc010ufh.2_Missense_Mutation_p.S992F|USP8_uc001zyp.4_Missense_Mutation_p.S265F	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	1098					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCTGTGAAATCTTCAGCAGCT	0.378000														40			35		0	0	0.00058488	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801030	133801030	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:133801030C>T	uc001qgx.4	-	11	1600	c.1369_splice	c.e11-1	p.V457_splice	IGSF9B_uc001qgy.1_Splice_Site_p.V299_splice	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	457	Ig-like 5.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTTCCCTACCTTGGTGAACA	0.637000														35			17		0	0	0.000229342	0	0
EIF2C3	192669	broad.mit.edu	37	1	36439063	36439063	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:36439063C>T	uc001bzp.3	+	4	954	c.609C>T	c.(607-609)ttC>ttT	p.F203F	EIF2C3_uc001bzn.1_Silent_p.F203F|EIF2C3_uc001bzq.3_Intron	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	203					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGTTTGGATTCCATCAGTCTG	0.458000														58			57		0	0	0.000781405	0	0
OR4K5	79317	broad.mit.edu	37	14	20389662	20389662	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20389662G>A	uc010tkw.2	+	0	897	c.897G>A	c.(895-897)agG>agA	p.R299R		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGCCGTAAGGAAAATTGTGA	0.383000														44			16		0	0	0.000566183	0	0
RARS	5917	broad.mit.edu	37	5	167915683	167915683	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:167915683T>A	uc003lzx.3	+	1	163	c.122T>A	c.(121-123)tTg>tAg	p.L41*	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	41	Could be involved in the assembly of the multisynthetase complex.				arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TCTCCAAATTTGGAGCAGTTA	0.353000														36			37		0	0	0.000953801	0	0
KAT2B	8850	broad.mit.edu	37	3	20136881	20136881	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:20136881T>A	uc003cbq.3	+	2	1003	c.557T>A	c.(556-558)gTt>gAt	p.V186D		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	186					N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ACCAAACAAGTTTATTTCTAT	0.368000														14			7		0	0	8.12818e-05	0	0
CYP39A1	51302	broad.mit.edu	37	6	46593237	46593237	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:46593237A>G	uc003oyf.1	-	6	1053	c.849T>C	c.(847-849)ttT>ttC	p.F283F	CYP39A1_uc011dwa.1_Silent_p.F263F|CYP39A1_uc010jzd.1_Silent_p.F111F	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	283					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CAAGTGTCCAAAATGCAACCT	0.313000														87			28		0	0	0.00127121	0	0
abParts	0	broad.mit.edu	37	14	106780696	106780696	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:106780696C>T	uc021ser.1	-	655		c.17998G>A								Parts of antibodies, mostly variable regions.																		GCTGCCGGATCCAGCCCCACC	0.582000														31			20		0	0	0.00152264	0	0
CPLX2	10814	broad.mit.edu	37	5	175305757	175305757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:175305757G>A	uc003mde.1	+	2	361	c.15G>A	c.(13-15)atG>atA	p.M5I	CPLX2_uc003mdf.1_Missense_Mutation_p.M5I	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	5					mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACTTCGTCATGAAGCAGGCCC	0.667000														32			12		0	0	0.000308642	0	0
NRXN3	9369	broad.mit.edu	37	14	79432563	79432563	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:79432563G>A	uc001xun.3	+	8	1963	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G616E	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCTCGTTTTGGACTGAGGAAC	0.468000														32			24		0	0	0.000586117	0	0
TLR8	51311	broad.mit.edu	37	X	12939813	12939813	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:12939813C>T	uc004cvd.3	+	2	2878	c.2708C>T	c.(2707-2709)tCt>tTt	p.S903F	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.S885F	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	885	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|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						GCTTACATTTCTTATGACACC	0.403000														6			31		0	0	0.000339439	0	0
ZNF733P	643955	broad.mit.edu	37	7	62758725	62758725	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:62758725C>T	uc011kdj.2	-	1	153	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		CATTGCCATTCCTCCAGAGAG	0.418000														15			14		0	0	0.000422831	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236762	140236762	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140236762G>A	uc003lhx.2	+	0	1129	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.D377N|PCDHAC2_uc011dad.2_Missense_Mutation_p.D377N	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	393	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGACCATGATTCAGGAGC	0.502000														53			48		0	0	0.000781405	0	0
KRT31	3881	broad.mit.edu	37	17	39552765	39552765	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39552765G>A	uc002hwn.3	-	2	548	c.495C>T	c.(493-495)atC>atT	p.I165I	KRT31_uc010cxn.3_Silent_p.I165I	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	165	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCTCATCCAGGATCCTGCGCA	0.607000														26			23		0	0	0.00047179	0	0
OR2Y1	134083	broad.mit.edu	37	5	180166915	180166915	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:180166915G>A	uc003mmf.1	-	0	144	c.144C>T	c.(142-144)ctC>ctT	p.L48L		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A47T(1)|p.L48V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTAGCCAGGAGAGAGCGATGA	0.512000														28			20		0	0	0.00152264	0	0
SEC24D	9871	broad.mit.edu	37	4	119661857	119661857	+	Silent	SNP	G	A	A	rs140046192	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:119661857G>A	uc003ici.4	-	16	2471	c.2199C>T	c.(2197-2199)caC>caT	p.H733H	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Silent_p.H734H|SEC24D_uc003icl.2_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	733					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTTTGTCATCGTGCTTGAACT	0.453000														41			21		0	0	0.000720815	0	0
ZNF548	147694	broad.mit.edu	37	19	57911020	57911020	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:57911020G>A	uc002qon.3	+	3	1651	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ZNF548_uc002qom.3_Silent_p.G455G|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGAGTGTGGGAAAGCCTTTA	0.448000														30			21		0	0	0.000295444	0	0
CFH	3075	broad.mit.edu	37	1	196881972	196881972	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:196881972G>A	uc001gtp.3	+	6	1237	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E	CFH_uc021pgt.1_Missense_Mutation_p.G49E|CFH_uc009wyy.3_Missense_Mutation_p.G366E|CFH_uc001gto.3_Missense_Mutation_p.G120E	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	722	Sushi 6.				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						tGTAAACCAGGATATGCAACA	0.294000														35			33		0	0	0.00178596	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813976	106813976	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:106813976A>G	uc003ymd.3	+	7	1689	c.1666A>G	c.(1666-1668)Aca>Gca	p.T556A	ZFPM2_uc011lhs.2_Missense_Mutation_p.T287A	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	556					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)			GTGTAACATAACATTCAATAA	0.473000														27			18		0	0	0.00074312	0	0
ITGB3	3690	broad.mit.edu	37	17	45369600	45369600	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:45369600C>T	uc002ilj.3	+	9	1376	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	452					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ACAGCCTGATCGTCCAGGTCA	0.547000														35			25		0	0	0.00047179	0	0
NBEAL1	65065	broad.mit.edu	37	2	203914536	203914537	+	Splice_Site	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:203914536_203914537GG>TT	uc002uzt.3	+	4	477	c.144_splice	c.e4-1	p.R48_splice	NBEAL1_uc002uzq.3_Splice_Site_p.R48_splice|NBEAL1_uc010zid.1_Intron|NBEAL1_uc010zie.1_Splice_Site	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	48							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTCTGTTGTAGGGTAGATGATA	0.391000														305			10		0	0	6.4e-05	0	0
ATXN2	6311	broad.mit.edu	37	12	111990746	111990746	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:111990746A>G	uc001tsj.3	-	3	1026	c.864T>C	c.(862-864)ggT>ggC	p.G288G	ATXN2_uc001tsh.3_Silent_p.G23G|ATXN2_uc001tsi.3_Intron|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsm.1_Silent_p.G23G	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	288					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CTTCATATATACCTCCATTTT	0.294000														13			36		0	0	0.000437636	0	0
ZNF699	374879	broad.mit.edu	37	19	9413135	9413135	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9413135C>T	uc002mlc.1	-	1	94	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAAGCCCATTCCTCCTGGGTA	0.443000														52			31		0	0	0.000491102	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269457	150269457	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:150269457C>T	uc003whl.3	+	2	381	c.299C>T	c.(298-300)tCc>tTc	p.S100F	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.S114F	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	100							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGAAACGTCCAAGGAGATT	0.517000														18			22		0	0	0.000229342	0	0
SSPO	23145	broad.mit.edu	37	7	149516409	149516409	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:149516409C>T	uc010lpk.3	+	83	11803	c.11803C>T	c.(11803-11805)Cct>Tct	p.P3935S	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3938					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCGTGTGCCCTGGCCCTGG	0.687000														25			13		0	0	0.000422831	0	0
C6orf170	221322	broad.mit.edu	37	6	121560297	121560297	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:121560297A>G	uc003pyo.1	-	19	2351	c.2283T>C	c.(2281-2283)aaT>aaC	p.N761N	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Silent_p.N280N	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	761					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CATATTCCAGATTGGACCATA	0.333000														19			27		0	0	0.001512	0	0
SPP2	6694	broad.mit.edu	37	2	234969029	234969029	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:234969029G>A	uc002vvk.1	+	3	435	c.350G>A	c.(349-351)aGa>aAa	p.R117K	SPP2_uc010fyl.1_Missense_Mutation_p.R37K	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	117					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GCTGTTTGCAGAAGCACCGTG	0.512000														30			25		0	0	0.000720815	0	0
OR2M5	127059	broad.mit.edu	37	1	248308997	248308997	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248308997C>T	uc010pze.2	+	0	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GACTTCCCTTCCCTACTAATC	0.418000														78			33		0	0	0.000692331	0	0
KCNH2	3757	broad.mit.edu	37	7	150648096	150648096	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:150648096G>A	uc003wic.3	-	7	2459	c.2058C>T	c.(2056-2058)ttC>ttT	p.F686F	KCNH2_uc003wib.3_Silent_p.F346F|KCNH2_uc011kux.2_Silent_p.F590F|KCNH2_uc003wid.3_Silent_p.F346F|KCNH2_uc003wie.3_Silent_p.F686F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	686					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGATCTGGTGGAAGCGGATGA	0.632000														21			16		0	0	0.000308642	0	0
SATB1	6304	broad.mit.edu	37	3	18462346	18462346	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:18462346G>A	uc003cbh.3	-	1	1849	c.114C>T	c.(112-114)agC>agT	p.S38S	SATB1_uc003cbi.3_Silent_p.S38S|SATB1_uc003cbj.3_Silent_p.S38S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	38					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTCCTAGCGGGCTCCCGTTCT	0.512000														52			33		0	0	0.00058488	0	0
CREBZF	58487	broad.mit.edu	37	11	85375599	85375599	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:85375599C>T	uc001pas.2	-	0	584	c.321G>A	c.(319-321)ctG>ctA	p.L107L	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	107					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GGAGATCCGCCAGTTCCAGCC	0.697000														50			47		0	0	0.000781405	0	0
C2orf16	84226	broad.mit.edu	37	2	27801313	27801313	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27801313G>A	uc002rkz.4	+	0	1925	c.1874G>A	c.(1873-1875)gGa>gAa	p.G625E		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	625										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)					CTAGAATCAGGAATTGAAGCA	0.423000														24			18		0	0	0.00074312	0	0
CSMD3	114788	broad.mit.edu	37	8	113697892	113697892	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:113697892C>T	uc003ynu.3	-	14	2384	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_uc003yns.3_Missense_Mutation_p.G14E|CSMD3_uc003ynt.3_Missense_Mutation_p.G702E|CSMD3_uc011lhx.2_Missense_Mutation_p.G638E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	742	CUB 4.					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						TAAATTATTTCCATACCCTTC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				37			21		0	0	0.000375601	0	0
OR8U8	504189	broad.mit.edu	37	11	56143797	56143797	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56143797G>A	uc001nit.2	+	0	698	c.698G>A	c.(697-699)gGa>gAa	p.G233E		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G233V(1)									TCAGCTGAGGGAAGACAGAAG	0.463000														6			7		0	0	0.000274275	0	0
NPY5R	4889	broad.mit.edu	37	4	164272412	164272412	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:164272412C>T	uc003iqn.3	+	3	1169	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NPY5R_uc021xtw.1_Silent_p.F329F	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	329					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CCAGTAAGTTCATACCAGGGG	0.393000														24			15		0	0	0.000308642	0	0
MIA2	117153	broad.mit.edu	37	14	39717065	39717065	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:39717065G>A	uc001wux.3	+	3	1481	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	MIA2_uc010amy.2_Silent_p.T360T	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	429						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AAATAGAAACGATAAAAATTA	0.323000														48			33		0	0	0.00058488	0	0
C15orf2	23742	broad.mit.edu	37	15	24921240	24921240	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:24921240C>T	uc001ywo.3	+	0	700	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	76					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCTCTCCCTCGGGCTGCGGC	0.711000														20			12		0	0	0.000151284	0	0
GPR162	27239	broad.mit.edu	37	12	6939701	6939701	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:6939701T>C	uc001qra.1	+	3	867	c.833T>C	c.(832-834)cTc>cCc	p.L278P	GPR162_uc001qrb.1_Missense_Mutation_p.L86P	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	356						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAGGGGGGCCTCTATGAGGCC	0.637000														2			9		0	0	0.000274275	0	0
INPP5J	27124	broad.mit.edu	37	22	31524544	31524544	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:31524544G>A	uc003aju.4	+	8	2189	c.2097G>A	c.(2095-2097)aaG>aaA	p.K699K	INPP5J_uc003ajw.3_Silent_p.K135K|INPP5J_uc003ajt.4_Silent_p.K331K|INPP5J_uc003ajv.4_Silent_p.K332K|INPP5J_uc003ajs.4_Silent_p.K332K|INPP5J_uc011alk.2_Silent_p.K632K|INPP5J_uc010gwg.3_Silent_p.K264K	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	699	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAGGACGGAAGAGCCACCGAC	0.607000														20			21		0	0	0.000295444	0	0
TCERG1	10915	broad.mit.edu	37	5	145838453	145838453	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:145838453T>C	uc003lob.3	+	3	485	c.445T>C	c.(445-447)Tat>Cat	p.Y149H	TCERG1_uc003loc.3_Missense_Mutation_p.Y149H|TCERG1_uc011dbt.2_Missense_Mutation_p.Y149H	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	149	WW 1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGGTTTATTATTATAATGC	0.368000														53			49		0	0	0.000781405	0	0
EPHA8	2046	broad.mit.edu	37	1	22902869	22902869	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:22902869G>A	uc001bfx.1	+	2	444	c.319G>A	c.(319-321)Gac>Aac	p.D107N	EPHA8_uc001bfw.3_Missense_Mutation_p.D107N	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	107						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R106R(1)|p.R106H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACCCTGCGCGACTGCAACAG	0.622000														31			22		0	0	0.00047179	0	0
PES1	23481	broad.mit.edu	37	22	30977392	30977392	+	Missense_Mutation	SNP	C	T	T	rs145353108	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:30977392C>T	uc003aij.2	-	7	858	c.751G>A	c.(751-753)Gag>Aag	p.E251K	PES1_uc003aik.2_Missense_Mutation_p.E251K|PES1_uc003aio.1_Missense_Mutation_p.E112K|PES1_uc003ain.1_Missense_Mutation_p.E112K	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	251	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding	p.E251K(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GCCTGACCCTCGAGCTAGTAG	0.632000														25			20		0	0	0.00121646	0	0
KANSL1L	151050	broad.mit.edu	37	2	210968836	210968836	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:210968836C>T	uc002vds.3	-	3	1628	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K	KANSL1L_uc002vdt.3_Missense_Mutation_p.E474K|KANSL1L_uc002vdw.3_Missense_Mutation_p.E474K|KANSL1L_uc002vdv.3_Missense_Mutation_p.E474K|KANSL1L_uc002vdx.1_Missense_Mutation_p.E474K	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	474																	ACCTGTTTTTCGATGTTTCGA	0.368000														28			18		0	0	0.00152264	0	0
SCN10A	6336	broad.mit.edu	37	3	38753718	38753718	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:38753718G>A	uc003ciq.3	-	21	4023	c.4023C>T	c.(4021-4023)ttC>ttT	p.F1341F		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1341					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGACCCAGAAGAAGCTGCCAG	0.438000														46			52		0	0	0.000781405	0	0
PDE6C	5146	broad.mit.edu	37	10	95372844	95372844	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:95372844C>T	uc001kiu.4	+	0	500	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	121	GAF 1.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.T120fs*23(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				ACCCCCACCTCCAAGTTTGAG	0.562000														35			27		0	0	0.000339439	0	0
VEZT	55591	broad.mit.edu	37	12	95694281	95694281	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:95694281G>A	uc001tdz.2	+	11	2277	c.2172G>A	c.(2170-2172)caG>caA	p.Q724Q	VEZT_uc001tds.3_Silent_p.Q676Q|VEZT_uc001tdv.3_Silent_p.Q697Q|VEZT_uc009ztb.2_Non-coding_Transcript|VEZT_uc009ztc.1_Silent_p.Q89Q|VEZT_uc001tdy.2_Non-coding_Transcript	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	724						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CCATTAAGCAGAGGCTGGCAC	0.527000														9			37		0	0	0.000814825	0	0
CLEC16A	23274	broad.mit.edu	37	16	11219850	11219850	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:11219850C>T	uc021tcy.1	+	21	2718	c.2488C>T	c.(2488-2490)Cca>Tca	p.P830S	CLEC16A_uc002dan.4_Missense_Mutation_p.P812S|CLEC16A_uc002dao.3_Missense_Mutation_p.P828S|CLEC16A_uc002dap.3_5'UTR	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	830								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGGACCTCCCAATCCAGCC	0.612000														98			81		0	0	0.000781405	0	0
LAMA1	284217	broad.mit.edu	37	18	7024406	7024406	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:7024406G>T	uc002knm.3	-	17	2556	c.2462C>A	c.(2461-2463)cCg>cAg	p.P821Q	LAMA1_uc010wzj.2_Missense_Mutation_p.P297Q	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	821	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGAGTAGCCCGGGGCACACCA	0.418000														27			21		3.08376e-08	1.82243e-07	0.00047179	1	0
COL7A1	1294	broad.mit.edu	37	3	48626411	48626411	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:48626411G>A	uc003ctz.2	-	17	2333	c.2332C>T	c.(2332-2334)Cgt>Tgt	p.R778C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	778	Fibronectin type-III 7.|Nonhelical region (NC1).				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)		CTCGACACACGACCCACAGGC	0.602000														53			29		0	0	0.000409698	0	0
COL3A1	1281	broad.mit.edu	37	2	189864098	189864098	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:189864098G>A	uc002uqj.1	+	29	2227	c.2110G>A	c.(2110-2112)Gaa>Aaa	p.E704K		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	704	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTCCCGAAGGAGGAAA	0.483000														3			3		0	0	6.4e-05	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128160	68128160	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:68128160G>A	uc002jiq.3	+	2	168	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	KCNJ16_uc002jin.3_5'UTR|KCNJ16_uc002jio.3_5'UTR|KCNJ16_uc002jip.3_5'UTR|KCNJ16_uc021uch.1_5'Flank	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	0					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCCAAACCAAGAAATAGCAAC	0.358000														10			10		0	0	0.000673444	0	0
SPAG1	6674	broad.mit.edu	37	8	101178046	101178046	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:101178046G>T	uc003yjh.2	+	2	231	c.145G>T	c.(145-147)Ggt>Tgt	p.G49C	SPAG1_uc003yjg.1_Missense_Mutation_p.G49C|SPAG1_uc003yji.2_Missense_Mutation_p.G49C	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	49					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)		TTTAAGATCTGGTGAGGAAGG	0.418000														29			13		6.31663e-08	3.73024e-07	0.000308642	1	0
ACSM1	116285	broad.mit.edu	37	16	20702464	20702464	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:20702464G>A	uc002dhm.1	-	0	115	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.S16F	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	16					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTTGTGGAAGGATTTGTGGAT	0.522000														61			44		0	0	0.000781405	0	0
RNF168	165918	broad.mit.edu	37	3	196199338	196199338	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:196199338G>A	uc003fwq.3	-	5	1663	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	RNF168_uc010iah.3_Silent_p.A189A	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	356					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGATGTGGGGGCGCACCCAC	0.453000														68			70		0	0	0.000781405	0	0
GCK	2645	broad.mit.edu	37	7	44190561	44190561	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:44190561G>A	uc003tkl.2	-	3	947	c.477C>T	c.(475-477)atC>atT	p.I159I	GCK_uc003tkj.1_Silent_p.I158I|GCK_uc003tkk.1_Silent_p.I160I	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	159					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.E158K(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCACCTTATCGATGTCTTCGT	0.567000														163			135		0	0	0.000781405	0	0
BRCA2	675	broad.mit.edu	37	13	32903615	32903615	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:32903615C>T	uc001uub.1	+	7	894	c.667C>T	c.(667-669)Cat>Tat	p.H223Y	BRCA2_uc001uua.1_Missense_Mutation_p.H100Y	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	223					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTATTTCCTCATGATACTAC	0.259000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				17			21		0	0	0.000229342	0	0
REG1A	5967	broad.mit.edu	37	2	79349995	79349995	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:79349995C>T	uc010ysd.2	+	3	417	c.350C>T	c.(349-351)tCc>tTc	p.S117F	REG1A_uc002snz.3_Missense_Mutation_p.S117F	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	117	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGCAGTGGGTCCCTGGTCTCC	0.567000														31			20		0	0	0.00047179	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674707	71674707	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:71674707G>A	uc002fau.3	+	2	1073	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	340	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				TGCAAAACAAGAGAGAGGCTC	0.582000														31			28		0	0	0.00106085	0	0
ADORA3	140	broad.mit.edu	37	1	112033353	112033353	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:112033353G>A	uc001ebf.3	-	1	1149	c.382C>T	c.(382-384)Cta>Tta	p.L128L	ADORA3_uc001ebg.4_Silent_p.L47L|U6_uc021orr.1_5'Flank	NM_020683	NP_065734	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 1, mRNA.	253					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	TGGAATGATAGAATGCACCCA	0.453000														32			22		0	0	0.000295444	0	0
PSG4	5672	broad.mit.edu	37	19	43699279	43699279	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43699279C>T	uc002ovy.3	-	3	958	c.856G>A	c.(856-858)Gta>Ata	p.V286I	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.V193I	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	286	Ig-like C2-type 2.		V -> A (in dbSNP:rs2355442).		defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGTCGCTTTACCCTGGGACTG	0.448000														121			85		0	0	0.000781405	0	0
LRIG2	9860	broad.mit.edu	37	1	113637023	113637023	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:113637023C>T	uc001edf.1	+	4	776	c.578C>T	c.(577-579)tCc>tTc	p.S193F	LRIG2_uc009wgn.1_Missense_Mutation_p.S90F	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	193						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTATCAAGTTCCTTATTAGTG	0.348000														50			48		0	0	0.000781405	0	0
ABRA	137735	broad.mit.edu	37	8	107773302	107773302	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:107773302C>T	uc003ymm.4	-	1	1163	c.1109G>A	c.(1108-1110)gGc>gAc	p.G370D		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	370	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GTCATCTCGGCCTTGCCATAG	0.428000														99			65		0	0	0.000781405	0	0
MLL3	58508	broad.mit.edu	37	7	151879201	151879201	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:151879201G>A	uc003wla.3	-	35	5963	c.5744C>T	c.(5743-5745)tCc>tTc	p.S1915F	MLL3_uc003wkz.3_Missense_Mutation_p.S976F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1915	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATTTCTTCTGGAAAAACTATG	0.473000			N		medulloblastoma									55			41		0	0	0.00148497	0	0
FRRS1	391059	broad.mit.edu	37	1	100212969	100212969	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:100212969G>A	uc001dsh.1	-	3	816	c.214C>T	c.(214-216)Cca>Tca	p.P72S		NM_001013660	NP_001013682	Q6ZNA5	FRRS1_HUMAN	Homo sapiens ferric-chelate reductase 1 (FRRS1), mRNA.	72	Reelin.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CCTTTAAATGGATGCCCTGAC	0.368000														68			56		0	0	0.000781405	0	0
OR2W3	343171	broad.mit.edu	37	1	248059530	248059530	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248059530C>T	uc010pzb.2	+	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I	OR2W3_uc001idp.1_Silent_p.I214I	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	214					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)			TGGTGTTTATCCTGCTCTCTT	0.587000														75			97		0	0	0.000781405	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424004	47424004	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:47424004A>C	uc010ekv.3	+	0	2072	c.2072A>C	c.(2071-2073)aAt>aCt	p.N691T		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	691					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CGGCGGGATAATCATTTAGTC	0.453000														12			7		0	0	8.12818e-05	0	0
SETBP1	26040	broad.mit.edu	37	18	42531999	42531999	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:42531999C>T	uc010dni.3	+	3	2990	c.2694C>T	c.(2692-2694)tcC>tcT	p.S898S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	898						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATTTCTGCTCCCTGGACAACC	0.552000									Schinzel-Giedion syndrome					12			18		0	0	0.000566183	0	0
PKP2	5318	broad.mit.edu	37	12	33030884	33030884	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:33030884C>T	uc001rlj.4	-	2	1045	c.930G>A	c.(928-930)gtG>gtA	p.V310V	PKP2_uc001rlk.4_Silent_p.V310V|PKP2_uc010skj.2_Silent_p.V310V	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	310					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CGCTGGAATCCACGGCGACAC	0.637000														2			27		0	0	0.001512	0	0
KIF13B	23303	broad.mit.edu	37	8	29033619	29033619	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:29033619G>A	uc003xhh.4	-	9	970	c.911C>T	c.(910-912)cCa>cTa	p.P304L	KIF13B_uc003xhj.2_Missense_Mutation_p.P201L|KIF13B_uc010lvf.1_Missense_Mutation_p.P240L	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	304					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	p.P304A(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTCACGATATGGAACAAATTT	0.428000														22			8		0	0	0.000274275	0	0
DNAH8	1769	broad.mit.edu	37	6	38980282	38980282	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:38980282G>A	uc021yzh.1	+	90	13692	c.13583G>A	c.(13582-13584)aGa>aAa	p.R4528K	DNAH8_uc003ooe.2_Missense_Mutation_p.R4311K	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						CTCTGGAAAAGAGTGTCTTGG	0.413000														76			18		0	0	0.00121646	0	0
DPT	1805	broad.mit.edu	37	1	168670275	168670275	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:168670275G>A	uc001gfp.3	-	2	549	c.519C>T	c.(517-519)acC>acT	p.T173T		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	173	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAGAGAAAGTGGTTGTTGCTC	0.453000														65			84		0	0	0.000781405	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615468	70615468	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:70615468G>A	uc003hen.3	-	3	644	c.346C>T	c.(346-348)Cct>Tct	p.P116S		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	116					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAAGATTTAGGAAGAAGATCA	0.368000														66			27		0	0	0.00058488	0	0
FANCM	57697	broad.mit.edu	37	14	45605493	45605493	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:45605493A>G	uc001wwd.4	+	0	358	c.259A>G	c.(259-261)Acc>Gcc	p.T87A	FANCM_uc001wwc.2_Missense_Mutation_p.T87A|FANCM_uc010anf.3_Missense_Mutation_p.T87A|FKBP3_uc010tqf.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	87					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GATTTACCCTACCAATTGCCC	0.577000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					44			12		0	0	0.000151284	0	0
CHGB	1114	broad.mit.edu	37	20	5897513	5897513	+	Silent	SNP	G	A	A	rs141825852		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:5897513G>A	uc002wmg.3	+	2	444	c.138G>A	c.(136-138)tcG>tcA	p.S46S	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	46						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATGCCTTGTCGAAGTCCAGCG	0.557000														36			24		0	0	0.000720815	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409643	19409643	+	RNA	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:19409643G>A	uc010tcj.1	-	0		c.36467C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAGCCTCTTTGGATATTAATT	0.328000														52			36		0	0	0.000814825	0	0
CCDC54	84692	broad.mit.edu	37	3	107096864	107096864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:107096864G>A	uc003dwi.1	+	0	677	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	144										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						GACAGAACTGGAAATTCAGAA	0.388000														21			25		0	0	0.000375601	0	0
SLC18A1	6570	broad.mit.edu	37	8	20022597	20022598	+	Missense_Mutation	DNP	AG	TA	TA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:20022597_20022598AG>TA	uc011kyq.2	-	9	1350_1351	c.879_880CT>TA	c.(877-882)ctcttt>ctTAtt	p.F294I	SLC18A1_uc003wzm.3_Missense_Mutation_p.F294I|SLC18A1_uc011kyr.2_Missense_Mutation_p.F294I|SLC18A1_uc003wzn.3_Missense_Mutation_p.F294I|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	294					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		AGAAGCATAAAGAGGGGAGTCC	0.495000														33			28		0	0	6.4e-05	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197920	19197920	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:19197920G>A	uc021wle.1	-	19	3240	c.3165C>T	c.(3163-3165)atC>atT	p.I1055I	CLTCL1_uc021wld.1_Silent_p.I1055I|CLTCL1_uc021wlc.1_Silent_p.I1055I|CLTCL1_uc021wlf.1_Silent_p.I1055I|CLTCL1_uc011agw.1_Silent_p.I1055I|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_Silent_p.I15I|CLTCL1_uc002zpe.2_Silent_p.I15I	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	1055	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)					CGATGCTCGCGATGTCCAGTG	0.537000			T	?	ALCL									28			31		0	0	0.000409698	0	0
PRPF18	8559	broad.mit.edu	37	10	13656021	13656021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:13656021C>T	uc001imp.3	+	7	875	c.727C>T	c.(727-729)Cct>Tct	p.P243S	PRPF18_uc001imq.3_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	243					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TCAGAATCTTCCTGCTGATAT	0.279000														21			16		0	0	0.000308642	0	0
TBX20	57057	broad.mit.edu	37	7	35242073	35242073	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:35242073T>C	uc011kas.2	-	7	1793	c.1313A>G	c.(1312-1314)cAt>cGt	p.H438R		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	438						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGCAGAGGAATGGCGTAGTCC	0.498000														2			5		0	0	0.000157383	0	0
CAD	790	broad.mit.edu	37	2	27447350	27447350	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27447350G>A	uc002rji.3	+	8	1408	c.1246G>A	c.(1246-1248)Ggc>Agc	p.G416S	CAD_uc010eyw.3_Missense_Mutation_p.G416S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	416	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGACTACTCGGGCTCTCAGGT	0.567000														42			25		0	0	0.000586117	0	0
P4HA1	5033	broad.mit.edu	37	10	74833576	74833576	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:74833576G>A	uc021ptk.1	-	1	118	c.86C>T	c.(85-87)aCt>aTt	p.T29I	P4HA1_uc010qka.2_Missense_Mutation_p.T29I|P4HA1_uc001jth.3_Missense_Mutation_p.T29I|P4HA1_uc001jtg.3_Missense_Mutation_p.T29I|P4HA1_uc010qkb.2_Missense_Mutation_p.T29I|P4HA1_uc021ptj.1_Missense_Mutation_p.T29I	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	29						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GATCAAATCAGTCATCTGACC	0.333000														37			31		0	0	0.00178596	0	0
PHLPP1	23239	broad.mit.edu	37	18	60612419	60612419	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:60612419T>G	uc021ule.1	+	11	3484	c.3239T>G	c.(3238-3240)aTg>aGg	p.M1080R		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1080					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ACAACGATCATGAATTGCAGG	0.433000														26			22		0	0	0.000295444	0	0
FADS2	9415	broad.mit.edu	37	11	61631251	61631251	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:61631251G>T	uc001nsl.1	+	9	1300	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	FADS2_uc001nsj.2_Nonsense_Mutation_p.E362*|FADS2_uc010rlo.1_Nonsense_Mutation_p.E353*|FADS2_uc001nsk.3_Nonsense_Mutation_p.E384*	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	384					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CTTCCAGATTGAGCACCAGTG	0.622000														15			13		1.52009e-12	9.05646e-12	0.000308642	1	0
MAPK10	5602	broad.mit.edu	37	4	87023060	87023060	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:87023060C>T	uc003hps.3	-	6	1237	c.551G>A	c.(550-552)gGa>gAa	p.G184E	MAPK10_uc010ikg.3_Missense_Mutation_p.G146E|MAPK10_uc003hpr.3_Missense_Mutation_p.G146E|MAPK10_uc003hpt.3_Missense_Mutation_p.G184E|MAPK10_uc003hpu.3_Missense_Mutation_p.G184E|MAPK10_uc003hpv.3_Missense_Mutation_p.G39E|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc003hpn.3_5'Flank|MAPK10_uc011ccw.2_Missense_Mutation_p.G70E|MAPK10_uc003hpo.3_Missense_Mutation_p.G39E|MAPK10_uc003hpp.3_Missense_Mutation_p.G39E	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	184	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GTGAATAATTCCAGCAGAATG	0.403000														20			17		0	0	0.000958276	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:108672495C>T	uc003dxj.2	-	0	183	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_uc003dxk.2_Missense_Mutation_p.E39K	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000														60			46		0	0	0.000781405	0	0
NCSTN	23385	broad.mit.edu	37	1	160326137	160326137	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:160326137G>A	uc001fvx.3	+	14	1763	c.1639_splice	c.e14+1	p.G547_splice	NCSTN_uc001fvy.3_Splice_Site_p.G527_splice|NCSTN_uc010pjf.2_Splice_Site_p.G409_splice|NCSTN_uc010pjg.2_Splice_Site_p.G289_splice	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	547					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCCTACTTGGGTAAGCATCT	0.443000														55			30		0	0	0.000491102	0	0
C1orf158	93190	broad.mit.edu	37	1	12806420	12806420	+	Silent	SNP	G	A	A	rs3192728		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12806420G>A	uc001auh.3	+	0	258	c.42G>A	c.(40-42)ccG>ccA	p.P14P	C1orf158_uc010obe.1_Silent_p.P14P	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	14										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCTACTCCGAGCTGGCAGA	0.478000														35			20		0	0	0.000229342	0	0
PREX2	80243	broad.mit.edu	37	8	68992720	68992720	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:68992720G>T	uc003xxv.1	+	15	1712	c.1685G>T	c.(1684-1686)cGt>cTt	p.R562L	PREX2_uc003xxu.1_Missense_Mutation_p.R562L|PREX2_uc011lez.1_Missense_Mutation_p.R497L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCG	0.328000														40			16		1.15919e-05	6.81551e-05	0.00121646	1	0
OLFM3	118427	broad.mit.edu	37	1	102270070	102270070	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:102270070A>G	uc001duf.2	-	5	1232	c.1161T>C	c.(1159-1161)acT>acC	p.T387T	OLFM3_uc001dug.2_Silent_p.T367T|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.T292T|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	387	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		TGGGGTAGCCAGTGCTCCAGC	0.478000														8			5		0	0	0.00116845	0	0
SYCP1	6847	broad.mit.edu	37	1	115455667	115455667	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:115455667G>A	uc001efr.3	+	18	1752	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E515K|SYCP1_uc009wgw.3_Missense_Mutation_p.E515K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	515					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		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)		TAAGAATACTGAATTAACTTC	0.299000														34			21		0	0	0.000229342	0	0
CACNA1G	8913	broad.mit.edu	37	17	48674195	48674195	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:48674195G>A	uc002irk.1	+	15	3541	c.3169G>A	c.(3169-3171)Ggc>Agc	p.G1057S	CACNA1G_uc002iri.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irj.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irl.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irm.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irn.1_Missense_Mutation_p.G1034S|CACNA1G_uc002iro.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irp.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irq.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irr.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irs.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irt.1_Missense_Mutation_p.G1057S|CACNA1G_uc002iru.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irv.1_Missense_Mutation_p.G1057S|CACNA1G_uc002irw.1_Missense_Mutation_p.G1034S|CACNA1G_uc002irx.1_Missense_Mutation_p.G970S|CACNA1G_uc002iry.1_Missense_Mutation_p.G970S|CACNA1G_uc002isg.1_Missense_Mutation_p.G970S|CACNA1G_uc002ish.1_Missense_Mutation_p.G970S|CACNA1G_uc002isi.1_Missense_Mutation_p.G947S|CACNA1G_uc002irz.1_Missense_Mutation_p.G970S|CACNA1G_uc002isa.1_Missense_Mutation_p.G970S|CACNA1G_uc002isd.1_Missense_Mutation_p.G970S|CACNA1G_uc002isb.1_Missense_Mutation_p.G970S|CACNA1G_uc002isc.1_Missense_Mutation_p.G970S|CACNA1G_uc002ise.1_Missense_Mutation_p.G970S|CACNA1G_uc002isf.1_Missense_Mutation_p.G970S|CACNA1G_uc002isj.3_5'Flank	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1057					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACCAGCACGGGCCTGGGCGA	0.721000														5			11		0	0	0.000151284	0	0
KIAA1199	57214	broad.mit.edu	37	15	81199035	81199035	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:81199035G>A	uc002bfw.1	+	11	1703	c.1443G>A	c.(1441-1443)gaG>gaA	p.E481E	KIAA1199_uc010unn.1_Silent_p.E481E	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	481										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCGGGGAGGAGATAGACGGCG	0.572000														37			31		0	0	0.00128727	0	0
PDZD2	23037	broad.mit.edu	37	5	32061115	32061115	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:32061115G>A	uc003jhl.3	+	13	2714	c.2326G>A	c.(2326-2328)Gat>Aat	p.D776N	PDZD2_uc003jhm.3_Missense_Mutation_p.D776N|PDZD2_uc011cnx.1_Missense_Mutation_p.D602N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	776	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G775W(1)|p.D776V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TAGCCGCGGGGATCAAATCCT	0.493000														32			26		0	0	0.001512	0	0
PIP	5304	broad.mit.edu	37	7	142836727	142836727	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142836727G>A	uc003wcf.1	+	3	469	c.433G>A	c.(433-435)Gta>Ata	p.V145I		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	145						extracellular region	actin binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		AATCCTAAAGGTAGAATAATG	0.408000														83			69		0	0	0.000781405	0	0
CR1L	1379	broad.mit.edu	37	1	207850751	207850751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:207850751G>A	uc001hga.4	+	1	236	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	39	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAATGTCCCGGAATGGCTTCC	0.398000														70			21		0	0	0.000295444	0	0
FES	2242	broad.mit.edu	37	15	91435974	91435974	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:91435974C>T	uc002bpv.3	+	13	1864	c.1745C>T	c.(1744-1746)gCc>gTc	p.A582V	FES_uc010uqj.2_Missense_Mutation_p.A454V|FES_uc010uqk.2_Missense_Mutation_p.A564V|FES_uc002bpx.3_Missense_Mutation_p.A512V|FES_uc002bpy.3_Missense_Mutation_p.A524V|FES_uc010bny.3_Missense_Mutation_p.A454V	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	582	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGCCTGCGAGCCGACAACACC	0.577000														167			99		0	0	0.000781405	0	0
SEZ6	124925	broad.mit.edu	37	17	27308885	27308885	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:27308885G>A	uc002hdp.2	-	1	422	c.228C>T	c.(226-228)ttC>ttT	p.F76F	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Silent_p.F76F|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Silent_p.F76F	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	76						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CCTCTTGTAGGAATTCCTCAA	0.622000														28			23		0	0	0.000295444	0	0
OR51F1	256892	broad.mit.edu	37	11	4790701	4790701	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:4790701C>T	uc010qyl.2	-	0	447	c.447G>A	c.(445-447)ctG>ctA	p.L149L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	149						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGTAATCATCAGAAGACCCA	0.428000														4			25		0	0	0.00047179	0	0
RNF180	285671	broad.mit.edu	37	5	63509416	63509416	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:63509416C>T	uc003jti.3	+	3	373	c.263C>T	c.(262-264)cCt>cTt	p.P88L	RNF180_uc003jth.4_Missense_Mutation_p.P88L|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	88						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CTGAATTGTCCTTTCTGTGGG	0.423000														71			42		0	0	0.000781405	0	0
ATP8B4	79895	broad.mit.edu	37	15	50189491	50189491	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:50189491G>T	uc001zxu.3	-	22	2837	c.2695C>A	c.(2695-2697)Cag>Aag	p.Q899K	ATP8B4_uc010ber.3_Missense_Mutation_p.Q772K|ATP8B4_uc010ufd.2_Missense_Mutation_p.Q709K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.Q197K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	899					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			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTACCAACCTGGGCTGAGAAA	0.303000														70			6		0.00116845	0.00683006	0.00116845	1	0
PDPR	55066	broad.mit.edu	37	16	70162962	70162962	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:70162962G>A	uc002eyf.1	+	5	1501	c.544G>A	c.(544-546)Gag>Aag	p.E182K	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.E82K|PDPR_uc002eyg.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	182					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		GCATGTTCCCGAGGATGCAGT	0.532000														180			92		0	0	0.000781405	0	0
EDAR	10913	broad.mit.edu	37	2	109547439	109547439	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:109547439G>A	uc010fjn.3	-	2	579	c.32C>T	c.(31-33)cCc>cTc	p.P11L	EDAR_uc010yws.2_Missense_Mutation_p.P11L|EDAR_uc002teq.4_Missense_Mutation_p.P11L	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	11					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GGGGAGCCAGGGCGTCTGCGT	0.612000														47			21		0	0	0.00152264	0	0
SEMG2	6407	broad.mit.edu	37	20	43835771	43835771	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:43835771G>A	uc010ggz.3	+	1	133	c.76_splice	c.e1+1	p.G26_splice	SEMG2_uc002xni.2_Splice_Site_p.G26_splice|SEMG2_uc002xnj.2_Splice_Site_p.G26_splice	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	26					sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGACAAAAAGGTGAGTGGAGA	0.453000														19			11		0	0	0.000978159	0	0
RAB27B	5874	broad.mit.edu	37	18	52556538	52556538	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:52556538G>A	uc002lfr.3	+	5	794	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_004163	NP_004154	O00194	RB27B_HUMAN	Homo sapiens RAB27B, member RAS oncogene family (RAB27B), mRNA.	184					protein transport|small GTPase mediated signal transduction	Golgi apparatus|plasma membrane	GTP binding|GTPase activity	p.R184Q(2)		large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		ATCATGAAGCGAATGGAACAG	0.418000														12			7		0	0	0.000157383	0	0
COL4A5	1287	broad.mit.edu	37	X	107834829	107834829	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:107834829G>A	uc022ccg.1	+	20	1580	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	COL4A5_uc004enz.1_Missense_Mutation_p.G460R|COL4A5_uc004eob.1_Missense_Mutation_p.G68R	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	460	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGCCCCCCAGGATCTCCAGG	0.398000									Alport syndrome with Diffuse Leiomyomatosis					6			42		0	0	0.000781405	0	0
RTKN	6242	broad.mit.edu	37	2	74657620	74657620	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:74657620C>T	uc002sle.3	-	3	516	c.399G>A	c.(397-399)aaG>aaA	p.K133K	RTKN_uc002slc.3_Silent_p.K120K|RTKN_uc002sld.3_Silent_p.K83K	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	133					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						ATTCTGTGTCCTTCCACATGA	0.532000														37			27		0	0	0.001512	0	0
NLRC5	84166	broad.mit.edu	37	16	57111870	57111870	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57111870C>T	uc021tiu.1	+	41	5146	c.5019C>T	c.(5017-5019)gcC>gcT	p.A1673A	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Silent_p.A215A|NLRC5_uc002ekr.1_Silent_p.A560A	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1673					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GCTGCAATGCCCTGGGGGATC	0.672000														20			16		0	0	0.00074312	0	0
CELF4	56853	broad.mit.edu	37	18	34850794	34850794	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:34850794G>A	uc002lae.2	-	7	1432	c.1036C>T	c.(1036-1038)Cca>Tca	p.P346S	CELF4_uc021uix.1_Missense_Mutation_p.P344S|CELF4_uc021uiy.1_Missense_Mutation_p.P345S|CELF4_uc002lag.2_Missense_Mutation_p.P336S|CELF4_uc002laf.2_Missense_Mutation_p.P341S|CELF4_uc002lai.2_Missense_Mutation_p.P331S|CELF4_uc002lah.2_Missense_Mutation_p.P71S	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	346					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TTGGCCTGTGGGGGGAGGCCG	0.612000														37			13		0	0	0.000219431	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860833	96860833	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:96860833A>G	uc010mrj.2	+	5	2087	c.1985A>G	c.(1984-1986)gAa>gGa	p.E662G	PTPDC1_uc004auf.2_Missense_Mutation_p.E608G|PTPDC1_uc004aug.2_Missense_Mutation_p.E608G|PTPDC1_uc004auh.2_Missense_Mutation_p.E660G|PTPDC1_uc010mri.2_Missense_Mutation_p.E660G	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	608							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GAAAAGGAGGAACTAAAAAGG	0.363000														10			31		0	0	0.000409698	0	0
TTN	7273	broad.mit.edu	37	2	179426124	179426124	+	Silent	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179426124T>C	uc021vsy.1	-	274	77256	c.77031A>G	c.(77029-77031)gaA>gaG	p.E25677E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E19372E|TTN_uc021vta.1_Silent_p.E19305E|TTN_uc021vtb.1_Silent_p.E19180E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26604	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25675E(1)|p.E19372E(1)|p.E19180E(1)|p.E19305E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGGACTGGTTCACAAGATT	0.403000														33			20		0	0	0.000375601	0	0
DDX55	57696	broad.mit.edu	37	12	124101089	124101090	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:124101089_124101090CG>AT	uc001ufi.3	+	9	1012_1013	c.988_989CG>AT	c.(988-990)cgg>ATg	p.R330M	DDX55_uc001ufh.3_Missense_Mutation_p.R183M|DDX55_uc001ufj.1_Missense_Mutation_p.R183M|DDX55_uc001ufk.3_Missense_Mutation_p.R183M|DDX55_uc001ufl.3_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	330	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TGTGATGGCCCGGGGAATTGAT	0.475000														152			6		0	0	6.4e-05	0	0
NDST3	9348	broad.mit.edu	37	4	119064801	119064801	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:119064801C>T	uc003ibx.3	+	5	1904	c.1501C>T	c.(1501-1503)Caa>Taa	p.Q501*	NDST3_uc011cgf.1_Nonsense_Mutation_p.Q420*	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	501	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TAAGAGTATCCAAGGAGGAGA	0.418000														19			27		0	0	0.00106085	0	0
SP110	3431	broad.mit.edu	37	2	231077610	231077610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:231077610G>A	uc002vqg.3	-	3	689	c.449C>T	c.(448-450)tCa>tTa	p.S150L	SP110_uc002vqh.3_Missense_Mutation_p.S150L|SP110_uc002vqi.4_Missense_Mutation_p.S150L|SP110_uc010fxk.3_Missense_Mutation_p.S150L|SP110_uc021vxx.1_Missense_Mutation_p.S156L	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	150					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CGCACAGGGTGAACAGCTTGG	0.597000														60			45		0	0	0.000781405	0	0
LINS	55180	broad.mit.edu	37	15	101114038	101114038	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:101114038G>A	uc002bwg.3	-	4	1263	c.1040C>T	c.(1039-1041)tCg>tTg	p.S347L	LINS_uc002bwd.3_5'Flank|LINS_uc010usa.2_Missense_Mutation_p.S228L|LINS_uc002bwi.3_Missense_Mutation_p.S347L	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	347										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						CAACAACCCCGAATTCACAGC	0.453000														48			35		0	0	0.00170553	0	0
CILP	8483	broad.mit.edu	37	15	65499344	65499344	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:65499344C>T	uc002aon.2	-	3	381	c.200G>A	c.(199-201)gGg>gAg	p.G67E		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	67					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTCGCCCTTCCCGCCTGGGTA	0.597000														12			11		0	0	0.00136819	0	0
IGSF9	57549	broad.mit.edu	37	1	159901383	159901383	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:159901383C>T	uc001fur.2	-	11	1571	c.1373G>A	c.(1372-1374)gGg>gAg	p.G458E	IGSF9_uc001fuq.2_Missense_Mutation_p.G442E|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	458	Ig-like 5.					cell junction|integral to membrane|synapse		p.R458*(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTTGCAGCCCCCGGCCCAC	0.647000														18			29		0	0	0.001512	0	0
PNKP	11284	broad.mit.edu	37	19	50368642	50368642	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:50368642C>T	uc002pqj.3	-	3	350	c.240G>A	c.(238-240)aaG>aaA	p.K80K	PNKP_uc002pqg.3_5'UTR|PNKP_uc002pqi.3_Silent_p.K41K|PNKP_uc021uxx.1_Silent_p.K80K	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA.	80					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		CCAACCCCGGCTTCAACTCCT	0.627000								Other BER factors						7			7		0	0	8.12818e-05	0	0
HP	3240	broad.mit.edu	37	16	72094666	72094666	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:72094666G>A	uc002fbr.4	+	6	1142	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.E307E|HP_uc021tld.1_Silent_p.E307E|HP_uc002fbt.4_Silent_p.E307E|HPR_uc002fby.3_5'Flank	NM_005143	NP_005134	P00738	HPT_HUMAN	Homo sapiens haptoglobin (HP), transcript variant 1, mRNA.	366	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		ACCTGGAGGAGGACACCTGGT	0.517000														53			26		0	0	0.00106085	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331376	100331376	+	RNA	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:100331376G>A	uc021sxl.1	-	1		c.1777C>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		AATGGCAGAAGAAACTCAACA	0.567000														11			10		0	0	0.000442599	0	0
FGGY	55277	broad.mit.edu	37	1	59922748	59922748	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:59922748G>A	uc009wac.3	+	6	882	c.670_splice	c.e6+1	p.G224_splice	FGGY_uc001czg.2_Splice_Site_p.G112_splice|FGGY_uc001czh.2_Splice_Site|FGGY_uc001czi.4_Splice_Site_p.G224_splice|FGGY_uc001czl.4_Splice_Site_p.G136_splice	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	224					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					CAGCAAAATAGGTAAAAGAAT	0.368000														5			11		0	0	0.000978159	0	0
EHD1	10938	broad.mit.edu	37	11	64622919	64622919	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64622919G>A	uc010rnq.1	-	4	1044	c.997C>T	c.(997-999)Ccc>Tcc	p.P333S	EHD1_uc021qkz.1_Missense_Mutation_p.P2S|EHD1_uc001obu.1_Missense_Mutation_p.P319S|EHD1_uc001obv.1_Missense_Mutation_p.P319S	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	319					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AAGACATTGGGCATCTCTTTC	0.557000											OREG0004024	type=REGULATORY REGION|Gene=EHD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		59			43		0	0	0.000680045	0	0
SPACA1	81833	broad.mit.edu	37	6	88767377	88767377	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:88767377G>A	uc003pmn.3	+	2	430	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	105						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		CCCTGGTGGTGAATCCAAGTG	0.393000														7			22		0	0	0.00127121	0	0
HOXB13	10481	broad.mit.edu	37	17	46805734	46805734	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:46805734G>A	uc002ioa.3	-	0	378	c.222C>T	c.(220-222)tcC>tcT	p.S74S		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	74					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S74P(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						CGGGAGCTGGGGACGTCCCCT	0.662000														62			24		0	0	0.000586117	0	0
LRG1	116844	broad.mit.edu	37	19	4538831	4538831	+	Silent	SNP	G	A	A	rs138125261	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:4538831G>A	uc002mau.3	-	1	176	c.165C>T	c.(163-165)tcC>tcT	p.S55S	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	55						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTTGACAGGAGATGGAGC	0.632000														46			38		0	0	0.00148497	0	0
GRM7	2917	broad.mit.edu	37	3	7620125	7620125	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:7620125G>A	uc003bqm.2	+	7	1806	c.1532G>A	c.(1531-1533)tGg>tAg	p.W511*	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Nonsense_Mutation_p.W511*|GRM7_uc003bql.2_Nonsense_Mutation_p.W511*|GRM7_uc003bqn.1_Nonsense_Mutation_p.W94*|GRM7_uc010hch.1_Nonsense_Mutation_p.W22*	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	511					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GACATGCAGTGGGGTAAAGGA	0.448000														11			4		0	0	0.00024832	0	0
GRIA2	2891	broad.mit.edu	37	4	158282245	158282245	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:158282245G>A	uc003ipm.4	+	13	2834	c.2375G>A	c.(2374-2376)gGa>gAa	p.G792E	GRIA2_uc011cit.2_Intron|GRIA2_uc003ipl.4_Intron|GRIA2_uc003ipk.4_Intron|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.G102E|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Intron|GRIA2_uc011ciy.1_Intron|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	792					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TACGACAAAGGAGAGTGCGGC	0.448000														7			4		0	0	0.00024832	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390499	61390499	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:61390499G>A	uc002ljk.4	+	8	1213	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	SERPINB11_uc010xes.2_Missense_Mutation_p.A174T|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.A235T|SERPINB11_uc010dqe.3_Missense_Mutation_p.A148T|SERPINB11_uc010dqf.3_Missense_Mutation_p.A147T	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	349	RCL (By similarity).				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGCAGCAGCAGCCACTGGGGA	0.493000														19			11		0	0	0.000978159	0	0
COL22A1	169044	broad.mit.edu	37	8	139729104	139729104	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:139729104A>G	uc003yvd.3	-	27	2811	c.2364T>C	c.(2362-2364)atT>atC	p.I788I	COL22A1_uc011ljo.2_Silent_p.I88I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	788	Collagen-like 6.|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)			CCTGCTCCCCAATTTCTCCCT	0.413000										HNSCC(7;0.00092)				46			20		0	0	0.000720815	0	0
NBPF1	55672	broad.mit.edu	37	1	16892178	16892178	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:16892178G>A	uc009vos.1	-	26	3902	c.3014C>T	c.(3013-3015)tCc>tTc	p.S1005F	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1005	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGCATAAAAGGAACTTCCATA	0.453000														613			27		0	0	0.000878237	0	0
ESRP2	80004	broad.mit.edu	37	16	68267908	68267909	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:68267908_68267909CC>TT	uc010cfa.1	-	2	617_618	c.429_430GG>AA	c.(427-432)gaggcc>gaAAcc	p.A144T	ESRP2_uc002evp.1_5'Flank|ESRP2_uc002evq.1_Missense_Mutation_p.A144T	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	144					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding	p.E143K(1)		NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TTCCTGGAGGCCTCGGGGTGCA	0.624000														10			8		0	0	6.4e-05	0	0
PSG4	5672	broad.mit.edu	37	19	43698546	43698546	+	Missense_Mutation	SNP	G	A	A	rs138668740		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43698546G>A	uc002ovy.3	-	4	1291	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.R304C|PSG4_uc002owb.3_Missense_Mutation_p.R304C	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	397	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCTGAGTTACGAACAGAGCAA	0.448000														85			81		0	0	0.000781405	0	0
CNTN1	1272	broad.mit.edu	37	12	41318411	41318411	+	Silent	SNP	G	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:41318411G>C	uc001rmm.1	+	5	566	c.453G>C	c.(451-453)ggG>ggC	p.G151G	CNTN1_uc009zjy.2_Silent_p.G151G|CNTN1_uc001rmn.1_Silent_p.G140G|CNTN1_uc001rmo.3_Silent_p.G151G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	151	Ig-like C2-type 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAAAAGAAGGGAAAGGAATGG	0.403000														0			6		0	0	8.12818e-05	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64569274	64569274	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:64569274C>T	uc003jtp.3	-	12	2327	c.1513_splice	c.e12-1	p.E505_splice	ADAMTS6_uc003jto.3_Splice_Site|ADAMTS6_uc003jtq.3_Intron|ADAMTS6_uc003jtr.1_Splice_Site_p.E126_splice	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	505	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E505K(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTACACACTTCCTAGGAAAGA	0.438000														36			26		0	0	0.00047179	0	0
PAPOLG	64895	broad.mit.edu	37	2	61002230	61002230	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:61002230C>T	uc002sai.3	+	7	915	c.666C>T	c.(664-666)acC>acT	p.T222T	PAPOLG_uc002saj.3_5'UTR|PAPOLG_uc002sak.3_5'UTR	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	Homo sapiens poly(A) polymerase gamma (PAPOLG), mRNA.	222					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTAGACTCACCCTAAGAGCTG	0.323000														45			12		0	0	0.000151284	0	0
CATSPER2	117155	broad.mit.edu	37	15	43924973	43924973	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:43924973G>A	uc001zsh.3	-	10	1553	c.1338C>T	c.(1336-1338)gtC>gtT	p.V446V	STRC_uc010udz.1_5'Flank|CATSPER2_uc010bdm.3_Intron|CATSPER2_uc001zsi.3_Silent_p.V444V|CATSPER2_uc001zsj.3_Silent_p.V444V	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN	Homo sapiens cation channel, sperm associated 2 (CATSPER2), transcript variant 2, mRNA.	446	Ser-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		atgtggaggagacacaggagg	0.378000														61			41		0	0	0.00111076	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579685	44579685	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:44579685G>A	uc003tlb.3	-	1	367	c.311C>T	c.(310-312)tCg>tTg	p.S104L	NPC1L1_uc011kbw.2_Missense_Mutation_p.S104L|NPC1L1_uc003tlc.3_Missense_Mutation_p.S104L|NPC1L1_uc003tld.3_Missense_Mutation_p.S104L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	104					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTTGGTGATCGACAGACTCGC	0.587000														22			12		0	0	0.000308642	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433576	69433576	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:69433576C>T	uc021xov.1	-	0	670	c.627G>A	c.(625-627)atG>atA	p.M209I		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	209					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TTATCCTCTCCATGAAAATCA	0.353000														3			33		0	0	0.000409698	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378688	114378688	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:114378688G>A	uc003pwg.4	-	1	806	c.774C>T	c.(772-774)ctC>ctT	p.L258L	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.L258L	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	258					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTTCCGTGATGAGGCGATCTC	0.428000														11			25		0	0	0.000586117	0	0
AGFG2	3268	broad.mit.edu	37	7	100162594	100162594	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:100162594A>G	uc003uvf.3	+	11	1562	c.1426A>G	c.(1426-1428)Acc>Gcc	p.T476A		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	476					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAAACCTCCAACCACCAACCC	0.532000														130			75		0	0	0.000781405	0	0
COL17A1	1308	broad.mit.edu	37	10	105797396	105797396	+	Missense_Mutation	SNP	C	T	T	rs147631156	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:105797396C>T	uc001kxr.3	-	45	3375	c.3206G>A	c.(3205-3207)cGg>cAg	p.R1069Q		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1069	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCTTACTCCGTAAGTAGCT	0.602000														38			38		0	0	0.00148497	0	0
CACNA1E	777	broad.mit.edu	37	1	181750643	181750643	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:181750643C>T	uc009wxt.3	+	38	5543	c.5348C>T	c.(5347-5349)tCc>tTc	p.S1783F	CACNA1E_uc001gow.3_Missense_Mutation_p.S1783F|CACNA1E_uc009wxs.3_Missense_Mutation_p.S1764F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1783					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGATGTCCCTCCAAAGTGGCA	0.532000														5			7		0	0	0.000442599	0	0
DLGAP5	9787	broad.mit.edu	37	14	55637496	55637496	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:55637496G>A	uc001xbs.3	-	10	1528	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	DLGAP5_uc001xbt.3_Silent_p.L437L	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	437					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTCTGACTGGAGGATATTTC	0.338000														45			35		0	0	0.00058488	0	0
AMOT	154796	broad.mit.edu	37	X	112021840	112021840	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:112021840G>A	uc004epr.3	-	10	3228	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	AMOT_uc004eps.3_Silent_p.I661I	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	1070					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTTGTCCCAGGATCTGAATGG	0.408000														28			164		0	0	0.000781405	0	0
KIAA1586	57691	broad.mit.edu	37	6	56915604	56915604	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:56915604C>T	uc003pdj.3	+	2	308	c.138C>T	c.(136-138)atC>atT	p.I46I	KIAA1586_uc011dxm.2_Intron	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	46							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTGAATACATCGATCTGGTCT	0.348000														102			39		0	0	0.000781405	0	0
FOXN3	1112	broad.mit.edu	37	14	89629234	89629234	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:89629234C>T	uc001xxo.4	-	6	1134	c.997G>A	c.(997-999)Gag>Aag	p.E333K	FOXN3_uc001xxn.4_Missense_Mutation_p.E311K|FOXN3_uc010atk.3_Missense_Mutation_p.E311K	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	333					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTGATCCTCCTTGGGGTCT	0.627000														16			8		0	0	0.000274275	0	0
TMEM63B	55362	broad.mit.edu	37	6	44102371	44102371	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:44102371G>A	uc003owr.3	+	1	114	c.50G>A	c.(49-51)aGc>aAc	p.S17N	TMEM63B_uc003owq.1_Missense_Mutation_p.S17N|TMEM63B_uc010jyy.1_5'UTR|TMEM63B_uc003ows.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	17						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)			CTCAACAACAGCAACCCCAAG	0.647000														37			16		0	0	0.00074312	0	0
KIF21B	23046	broad.mit.edu	37	1	200969524	200969524	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:200969524C>T	uc001gvs.2	-	10	1996	c.1679G>A	c.(1678-1680)aGg>aAg	p.R560K	KIF21B_uc009wzl.2_Missense_Mutation_p.R560K|KIF21B_uc001gvr.2_Missense_Mutation_p.R560K|KIF21B_uc010ppn.2_Missense_Mutation_p.R560K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	560					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACCTCTTCCTCCGCTGCCT	0.662000														105			41		0	0	0.000781405	0	0
TPTEP1	387590	broad.mit.edu	37	22	17119551	17119551	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:17119551C>T	uc002zls.1	+	1		c.388C>T			TPTEP1_uc002zlr.3_Non-coding_Transcript|TPTEP1_uc002zlt.3_Non-coding_Transcript					Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		ACTTTATATTCCTTCGGAGTA	0.348000														33			12		0	0	0.000978159	0	0
PHGDH	26227	broad.mit.edu	37	1	120277263	120277264	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:120277263_120277264GG>TT	uc001ehz.3	+	5	744_745	c.517_518GG>TT	c.(517-519)ggg>TTg	p.G173L	PHGDH_uc009whl.3_Missense_Mutation_p.G75L|PHGDH_uc009whm.3_Missense_Mutation_p.G71L|PHGDH_uc001eib.3_Missense_Mutation_p.G139L	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	173					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCAGACTATAGGGTATGACCCC	0.446000														364			13		0	0	6.4e-05	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472075	52472075	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52472075G>A	uc003dea.1	-	13	1650	c.1650C>T	c.(1648-1650)taC>taT	p.Y550Y		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	550					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGCTGGGGCGGTAGTGGGTAC	0.672000														16			9		0	0	0.000274275	0	0
HELQ	113510	broad.mit.edu	37	4	84369967	84369967	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:84369967A>G	uc003hom.3	-	2	1339	c.1160T>C	c.(1159-1161)aTt>aCt	p.I387T	HELQ_uc010ikb.3_Missense_Mutation_p.I387T|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript|HELQ_uc003hon.1_Missense_Mutation_p.I281T	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	387	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATATGGAAGAATCATTAAAAC	0.353000								Other identified genes with known or suspected DNA repair function						60			36		0	0	0.00148497	0	0
CDH8	1006	broad.mit.edu	37	16	61747832	61747832	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:61747832C>T	uc002eog.2	-	9	2522	c.1567G>A	c.(1567-1569)Gat>Aat	p.D523N		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	523	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTGGGATCATCTTTGTCCATG	0.378000														14			6		0	0	0.00116845	0	0
KLHL13	90293	broad.mit.edu	37	X	117043976	117043976	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:117043976G>A	uc011mtp.2	-	5	796	c.663C>T	c.(661-663)ttC>ttT	p.F221F	KLHL13_uc004eqk.3_Silent_p.F167F|KLHL13_uc004eql.3_Silent_p.F218F|KLHL13_uc011mtn.2_Silent_p.F58F|KLHL13_uc011mto.2_Silent_p.F212F|KLHL13_uc011mtq.2_Silent_p.F202F|KLHL13_uc004eqm.3_Silent_p.F176F|KLHL13_uc022cde.1_Silent_p.F202F	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	218	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCTTCAAGACGAAACTGTTAA	0.418000														5			25		0	0	0.00047179	0	0
ADRA1A	148	broad.mit.edu	37	8	26721843	26721843	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:26721843C>T	uc003xfc.1	-	0	1080	c.644G>A	c.(643-645)aGc>aAc	p.S215N	ADRA1A_uc010lul.1_Missense_Mutation_p.S215N|ADRA1A_uc003xfd.1_Non-coding_Transcript|ADRA1A_uc003xfe.1_Missense_Mutation_p.S215N|ADRA1A_uc010lum.1_Missense_Mutation_p.S215N|ADRA1A_uc003xff.1_Non-coding_Transcript|ADRA1A_uc003xfg.1_Missense_Mutation_p.S215N|ADRA1A_uc003xfh.1_Missense_Mutation_p.S215N|ADRA1A_uc022atd.1_Missense_Mutation_p.S215N	NM_033303	NP_150646	P35348	ADA1A_HUMAN	Homo sapiens adrenergic, alpha-1A-, receptor (ADRA1A), transcript variant 2, mRNA.	215					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of Rho protein signal transduction|negative regulation of cell proliferation|negative regulation of synaptic transmission, GABAergic|positive regulation of ERK1 and ERK2 cascade|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GAGGCCCCGGCTCTCCCTCTT	0.637000														12			9		0	0	0.000442599	0	0
HSF5	124535	broad.mit.edu	37	17	56565373	56565373	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:56565373C>T	uc002iwi.1	-	0	387	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	88						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGCGGAAGCCGTAGAGGTT	0.711000														24			30		0	0	0.000491102	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600048	81600048	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:81600048C>T	uc003uhr.1	-	26	2403	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E	CACNA2D1_uc011kgy.1_5'UTR	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	728						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGCTTTCACTCCCTTGCTGAA	0.338000														19			13		0	0	0.000566183	0	0
ZNF611	81856	broad.mit.edu	37	19	53208656	53208656	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53208656G>A	uc002pzz.3	-	6	1969	c.1652C>T	c.(1651-1653)tCc>tTc	p.S551F	ZNF611_uc010eqc.3_Missense_Mutation_p.S481F|ZNF611_uc010ydo.2_Missense_Mutation_p.S481F|ZNF611_uc010ydp.2_Missense_Mutation_p.S551F|ZNF611_uc010ydq.2_Missense_Mutation_p.S551F|ZNF611_uc010ydr.2_Missense_Mutation_p.S482F|ZNF611_uc002qaa.4_Missense_Mutation_p.S481F|ZNF611_uc021uyy.1_Missense_Mutation_p.S482F	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCCAGATAGGAATGACACGC	0.403000														109			78		0	0	0.000781405	0	0
RBM12	10137	broad.mit.edu	37	20	34240927	34240927	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:34240927C>T	uc021wcr.1	-	0	2318	c.2318G>A	c.(2317-2319)gGa>gAa	p.G773E	CPNE1_uc010zvj.2_Intron|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xdq.3_Missense_Mutation_p.G773E|RBM12_uc002xds.3_Missense_Mutation_p.G773E|RBM12_uc002xdr.3_Missense_Mutation_p.G773E|RBM12_uc021wcq.1_Missense_Mutation_p.G773E	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	773	Gly-rich.|Pro-rich.					nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TGGTCCACCTCCAAAACCCGG	0.557000														55			33		0	0	0.000692331	0	0
F2RL2	2151	broad.mit.edu	37	5	75913832	75913832	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:75913832C>T	uc003kem.3	-	1	885	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.E212K	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	234					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		AGATAATATTCCTGCTTCAGT	0.473000														8			11		0	0	0.000978159	0	0
DDX60	55601	broad.mit.edu	37	4	169204758	169204758	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:169204758C>T	uc003irp.3	-	13	1854	c.1562_splice	c.e13-1	p.E521_splice		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	521							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTAGATTTTTCTGAAAAAGAA	0.308000														21			4		0	0	0.00024832	0	0
VCAN	1462	broad.mit.edu	37	5	82816935	82816935	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:82816935T>A	uc003kii.3	+	6	3166	c.2810T>A	c.(2809-2811)gTa>gAa	p.V937E	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.V937E|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	937	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTAAGCCAGTATCTACTGTT	0.438000														38			31		0	0	0.000692331	0	0
CACNA1S	779	broad.mit.edu	37	1	201047096	201047096	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:201047096C>T	uc001gvv.3	-	10	1757	c.1530G>A	c.(1528-1530)gaG>gaA	p.E510E		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	510					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAGCAGGATCTCCAGGATAC	0.582000														32			36		0	0	0.000680045	0	0
BCCIP	56647	broad.mit.edu	37	10	127520013	127520013	+	Nonsense_Mutation	SNP	C	T	T	rs141189146		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:127520013C>T	uc001ljd.4	+	4	459	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	BCCIP_uc021qar.1_Nonsense_Mutation_p.Q146*|BCCIP_uc001ljb.4_Nonsense_Mutation_p.Q146*|BCCIP_uc001ljc.4_Nonsense_Mutation_p.Q146*|BCCIP_uc010quj.2_Nonsense_Mutation_p.Q116*	NM_016567	NP_057651	Q9P287	BCCIP_HUMAN	Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A, mRNA.	146	Interaction with BRCA2.				DNA repair|cell cycle|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAACAAATTCAAGAGTTGGT	0.423000														38			26		0	0	0.001512	0	0
HSPG2	3339	broad.mit.edu	37	1	22156080	22156080	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:22156080G>A	uc009vqd.3	-	86	11831	c.11791C>T	c.(11791-11793)Ccc>Tcc	p.P3931S	HSPG2_uc001bfi.3_5'UTR|HSPG2_uc001bfj.3_Missense_Mutation_p.P3930S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3930	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACAGCGAGGGGGTGGTCACT	0.657000														18			8		0	0	0.000274275	0	0
AHR	196	broad.mit.edu	37	7	17382555	17382555	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:17382555G>A	uc011jxz.1	+	10	3027	c.2414G>A	c.(2413-2415)gGa>gAa	p.G805E		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	805					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					TTTCAGAATGGAGTTTTAAAT	0.328000														40			21		0	0	0.000229342	0	0
BRIP1	83990	broad.mit.edu	37	17	59761105	59761105	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:59761105G>A	uc002izk.2	-	19	3608	c.3302C>T	c.(3301-3303)cCa>cTa	p.P1101L		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1101					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTCAATGTCTGGATCCAGGGC	0.358000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks						104			50		0	0	0.000781405	0	0
RNF213	57674	broad.mit.edu	37	17	78272221	78272221	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:78272221G>T	uc002jyh.2	+	11	2403	c.2260G>T	c.(2260-2262)Gcc>Tcc	p.A754S	RNF213_uc002jyf.3_Missense_Mutation_p.A705S|RNF213_uc021uen.1_Missense_Mutation_p.A705S|RNF213_uc002jyg.1_Missense_Mutation_p.A436S	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	705								p.V754F(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TATGGAGCTGGCCCCGCGGCA	0.612000														28			25		4.26978e-12	2.54198e-11	0.00047179	1	0
SLCO1C1	53919	broad.mit.edu	37	12	20858948	20858948	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:20858948G>A	uc010sii.2	+	4	692	c.337G>A	c.(337-339)Gga>Aga	p.G113R	SLCO1C1_uc010sij.2_Missense_Mutation_p.G113R|SLCO1C1_uc009zip.3_Intron|SLCO1C1_uc001rei.3_Missense_Mutation_p.G113R|SLCO1C1_uc010sik.2_5'UTR	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	113					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AAAAATAATTGGAGCAGGGTG	0.383000														28			123		0	0	0.000781405	0	0
C6orf165	154313	broad.mit.edu	37	6	88173907	88173907	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:88173907G>A	uc003plv.3	+	12	1931	c.1808G>A	c.(1807-1809)gGa>gAa	p.G603E	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Missense_Mutation_p.G415E|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	603										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CTTCGTGGAGGAAAGAGCGAA	0.468000														2			13		0	0	0.000422831	0	0
OR14I1	401994	broad.mit.edu	37	1	248845270	248845270	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248845270G>A	uc001ieu.1	-	0	336	c.336C>T	c.(334-336)ttC>ttT	p.F112F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGACAGTAAGGAAGGCCAGCT	0.507000														20			24		0	0	0.000375601	0	0
LPHN2	23266	broad.mit.edu	37	1	82431791	82431791	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:82431791A>T	uc001dit.4	+	10	2197	c.2016A>T	c.(2014-2016)aaA>aaT	p.K672N	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.K672N|LPHN2_uc001div.3_Missense_Mutation_p.K672N|LPHN2_uc009wcd.3_Missense_Mutation_p.K672N|LPHN2_uc001diw.3_Missense_Mutation_p.K256N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	685					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGACTTTAAATTTCCTCTGG	0.438000														34			22		0	0	0.00152264	0	0
IFT172	26160	broad.mit.edu	37	2	27700945	27700945	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27700945T>C	uc002rku.3	-	10	1135	c.1084A>G	c.(1084-1086)Atc>Gtc	p.I362V	IFT172_uc002rkv.3_Missense_Mutation_p.I336V|IFT172_uc010yls.2_Missense_Mutation_p.I341V|IFT172_uc010ezc.3_Missense_Mutation_p.I362V	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	362					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTTCCTAGGATTTTCACCTCT	0.478000														78			67		0	0	0.000781405	0	0
COL4A4	1286	broad.mit.edu	37	2	227942694	227942694	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:227942694G>A	uc021vxr.1	-	23	2004	c.1903C>T	c.(1903-1905)Cct>Tct	p.P635S	COL4A4_uc021vxs.1_Missense_Mutation_p.P635S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	635	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)		GGTGGACCAGGAAATCCCAGT	0.587000														21			20		0	0	0.00121646	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41000823	41000823	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:41000823G>A	uc003jmj.4	-	37	4797	c.4307C>T	c.(4306-4308)tCa>tTa	p.S1436L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.S991L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1436							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGAAGGAATGAAATCAGGCT	0.473000														9			5		0	0	0.00116845	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216071	140216071	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140216071C>T	uc003lhq.2	+	0	2103	c.2103C>T	c.(2101-2103)atC>atT	p.I701I	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.I701I	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	709					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACCTGATCATCGCCATCT	0.627000														39			38		0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141765211	141765211	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:141765211G>A	uc003vwy.3	+	37	4615	c.4561G>A	c.(4561-4563)Gga>Aga	p.G1521R		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1521	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCGCTGGGCAGGACATTGGCT	0.622000														2			4		0	0	0.00116845	0	0
GGA1	26088	broad.mit.edu	37	22	38028055	38028055	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:38028055C>T	uc003atc.3	+	14	1968	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	GGA1_uc003ate.3_Silent_p.F523F|GGA1_uc003atd.3_Silent_p.F440F|GGA1_uc003atf.3_Silent_p.F454F|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	527	GAE.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCATCCTCTTCCATTTTGCCC	0.632000														24			19		0	0	0.000958276	0	0
TNFSF11	8600	broad.mit.edu	37	13	43180868	43180868	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:43180868G>A	uc001uyu.2	+	4	917	c.768G>A	c.(766-768)atG>atA	p.M256I	TNFSF11_uc001uyt.2_Missense_Mutation_p.M183I	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	256					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		ATACCCTGATGAAAGGAGGAA	0.398000														48			28		0	0	0.00127121	0	0
OR8I2	120586	broad.mit.edu	37	11	55861530	55861530	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55861530C>T	uc010rix.2	+	0	747	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGTAACTATCTTTTATGGGT	0.488000														17			5		0	0	0.00116845	0	0
MUC4	4585	broad.mit.edu	37	3	195515738	195515738	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:195515738A>G	uc021xjp.1	-	1	2869	c.2713T>C	c.(2713-2715)Tcc>Ccc	p.S905P	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.S787P	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	910	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCCATCCGGGAAATGGCGGCT	0.602000														19			14		0	0	0.00074312	0	0
FBF1	85302	broad.mit.edu	37	17	73906868	73906868	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73906868T>C	uc002jqc.3	-	28	3612	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S	FBF1_uc002jqa.1_Intron|FBF1_uc010wsp.2_Missense_Mutation_p.N1104S|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Missense_Mutation_p.N423S	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	1113										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GAACTGTTCATTCTCCAAGAA	0.572000														8			13		0	0	0.000219431	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108582	75108582	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:75108582C>T	uc002ayt.1	+	1	262	c.260C>T	c.(259-261)cCc>cTc	p.P87L	LMAN1L_uc010bkd.2_Missense_Mutation_p.P15L|LMAN1L_uc010ulo.1_Missense_Mutation_p.P15L|LMAN1L_uc010bke.1_Missense_Mutation_p.P87L	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	87	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTCTGTCCCCTTCTCTGCC	0.662000														8			4		0	0	0.00024832	0	0
COL4A6	1288	broad.mit.edu	37	X	107437780	107437780	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:107437780C>T	uc004enw.4	-	15	1092	c.989G>A	c.(988-990)gGa>gAa	p.G330E	COL4A6_uc004env.4_Missense_Mutation_p.G329E|COL4A6_uc011msn.2_Missense_Mutation_p.G329E|COL4A6_uc010npk.3_Missense_Mutation_p.G329E	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	330	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCTTGGAATCCATTAAGCCC	0.403000									Alport syndrome with Diffuse Leiomyomatosis					19			82		0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41465660	41465660	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41465660G>A	uc002yyq.1	-	20	4290	c.3838C>T	c.(3838-3840)Cca>Tca	p.P1280S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1280					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)				TTTGCTAGTGGCTCGACTGTG	0.443000														8			5		0	0	0.00116845	0	0
LRFN2	57497	broad.mit.edu	37	6	40360141	40360141	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:40360141C>T	uc003oph.1	-	2	2376	c.1911G>A	c.(1909-1911)cgG>cgA	p.R637R		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	637						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCAGGGGGCCCGTCCCAGCC	0.706000														2			6		0	0	0.00116845	0	0
OR5T1	390155	broad.mit.edu	37	11	56043769	56043769	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:56043769G>A	uc001nio.1	+	0	655	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGGCTCTATTGAGATAGTCAC	0.413000														52			31		0	0	0.000339439	0	0
IL2	3558	broad.mit.edu	37	4	123372940	123372940	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:123372940G>A	uc003ier.3	-	3	484	c.429C>T	c.(427-429)acC>acT	p.T143T		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	143					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TTTGACAAAAGGTAATCCATC	0.294000			T	TNFRSF17	intestinal T-cell lymphoma									20			16		0	0	0.000295444	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179303026	179303026	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:179303026G>A	uc003mlh.3	-	10	1829	c.1794C>T	c.(1792-1794)atC>atT	p.I598I	TBC1D9B_uc003mli.3_Silent_p.I598I|TBC1D9B_uc003mlj.3_Silent_p.I598I	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	598	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGAGGTCACGATGTTCATTG	0.632000														12			5		0	0	0.000602214	0	0
CPXM2	119587	broad.mit.edu	37	10	125639769	125639769	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:125639769C>T	uc001lhk.1	-	1	686	c.361G>A	c.(361-363)Gat>Aat	p.D121N	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	121					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGTGATCATCGTTGGCAGCC	0.507000														99			69		0	0	0.000781405	0	0
RECQL4	9401	broad.mit.edu	37	8	145737578	145737578	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:145737578C>T	uc003zdj.3	-	18	3227	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	1062					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGGCGCTCCCGGGCCTGCAC	0.662000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					14			4		0	0	0.00024832	0	0
RP1L1	94137	broad.mit.edu	37	8	10466594	10466595	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:10466594_10466595GG>AA	uc003wtc.3	-	3	5242_5243	c.5013_5014CC>TT	c.(5011-5016)tccccc>tcTTcc	p.P1672S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1672					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTGGCCTTGGGGGACATAGGGC	0.629000														39			23		0	0	6.4e-05	0	0
CATSPERG	57828	broad.mit.edu	37	19	38850215	38850215	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38850215G>A	uc002oih.4	+	13	1689	c.1602G>A	c.(1600-1602)acG>acA	p.T534T	CATSPERG_uc002oig.4_Silent_p.T494T|CATSPERG_uc002oif.4_Silent_p.T174T|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	534					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCACAGAGACGGAGGAGGTGG	0.597000														17			12		0	0	0.000978159	0	0
DYSF	8291	broad.mit.edu	37	2	71780979	71780979	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:71780979T>G	uc010fen.3	+	20	2168	c.2027T>G	c.(2026-2028)gTg>gGg	p.V676G	DYSF_uc010fei.3_Missense_Mutation_p.V675G|DYSF_uc010feh.3_Missense_Mutation_p.V644G|DYSF_uc002sig.4_Missense_Mutation_p.V644G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.V689G|DYSF_uc010fee.3_Missense_Mutation_p.V658G|DYSF_uc010fef.3_Missense_Mutation_p.V675G|DYSF_uc002sie.3_Missense_Mutation_p.V658G|DYSF_uc010feo.3_Missense_Mutation_p.V690G|DYSF_uc010fej.3_Missense_Mutation_p.V645G|DYSF_uc010fel.3_Missense_Mutation_p.V645G|DYSF_uc010fem.3_Missense_Mutation_p.V659G|DYSF_uc002sif.3_Missense_Mutation_p.V659G|DYSF_uc010fek.3_Missense_Mutation_p.V676G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	658						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTGAAACCTGTGGTGGTGCTG	0.587000														12			16		0	0	0.000422831	0	0
MYO3A	53904	broad.mit.edu	37	10	26463421	26463421	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:26463421G>A	uc001isn.2	+	29	4588	c.4228G>A	c.(4228-4230)Gat>Aat	p.D1410N	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1410					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGAAGAAGGATAACAAAGA	0.323000														66			36		0	0	0.00111076	0	0
DYTN	391475	broad.mit.edu	37	2	207564565	207564565	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:207564565G>A	uc002vbr.1	-	6	722	c.605C>T	c.(604-606)tCt>tTt	p.S202F		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	202						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GGGAGGCTCAGATTGGACCCA	0.502000														16			12		0	0	0.00136819	0	0
LAMA1	284217	broad.mit.edu	37	18	7013954	7013954	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:7013954C>T	uc002knm.3	-	22	3317	c.3223G>A	c.(3223-3225)Gat>Aat	p.D1075N	LAMA1_uc010wzj.2_Missense_Mutation_p.D551N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1075	Laminin EGF-like 12.			D -> V (in Ref. 3; CAA41418).	axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAACACTGATCGCAGGCCCGG	0.592000														6			6		0	0	0.00116845	0	0
STARD13	90627	broad.mit.edu	37	13	33703582	33703582	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:33703582G>A	uc001uuw.3	-	4	1358	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	STARD13_uc001uuu.3_Missense_Mutation_p.S403F|STARD13_uc001uuv.3_Missense_Mutation_p.S293F|STARD13_uc001uux.3_Missense_Mutation_p.S376F|STARD13_uc010abh.1_Missense_Mutation_p.S396F|STARD13_uc021rhz.1_Missense_Mutation_p.S403F|STARD13_uc021ria.1_Missense_Mutation_p.S293F	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	411					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTTTCAATAGAAAGTGCCTT	0.527000														27			22		0	0	0.000229342	0	0
ZNF202	7753	broad.mit.edu	37	11	123601466	123601466	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:123601466G>A	uc001pzd.1	-	3	531	c.131C>T	c.(130-132)aCc>aTc	p.T44I	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.T44I|ZNF202_uc001pzf.1_Missense_Mutation_p.T44I	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	44					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CTGGTGGGAGGTTTCCAGCAC	0.532000														12			25		0	0	0.000586117	0	0
HMX2	3167	broad.mit.edu	37	10	124909315	124909315	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:124909315C>T	uc001lhc.1	+	1	755	c.498C>T	c.(496-498)tcC>tcT	p.S166S		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	Homo sapiens H6 family homeobox 2 (HMX2), mRNA.	166					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E165*(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGCTCGAGTCCACCTTCGACA	0.677000														16			10		0	0	0.000673444	0	0
PAPPA2	60676	broad.mit.edu	37	1	176661407	176661407	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:176661407C>T	uc001gkz.3	+	5	3741	c.2577C>T	c.(2575-2577)tcC>tcT	p.S859S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	859					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAACAAGTCCCTCACTATCC	0.507000														86			21		0	0	0.000720815	0	0
SLIT2	9353	broad.mit.edu	37	4	20512168	20512168	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:20512168C>T	uc003gpr.1	+	9	1169	c.965C>T	c.(964-966)cCa>cTa	p.P322L	SLIT2_uc003gps.1_Missense_Mutation_p.P322L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	322					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCTTTCTCACCATATAAAAAG	0.328000														83			69		0	0	0.000781405	0	0
TMEM66	51669	broad.mit.edu	37	8	29931525	29931525	+	Silent	SNP	G	A	A	rs80342246		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:29931525G>A	uc003xhs.3	-	1	334	c.150C>T	c.(148-150)gaC>gaT	p.D50D	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Intron	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	50						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TGGTATAGCGGTCATAGTGGA	0.468000														56			30		0	0	0.001512	0	0
ZNF563	147837	broad.mit.edu	37	19	12429625	12429625	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:12429625G>A	uc002mtp.3	-	3	1452	c.1214C>T	c.(1213-1215)cCt>cTt	p.P405L		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ACATACACTAGGATAAACAAA	0.413000														76			67		0	0	0.000781405	0	0
ITGAL	3683	broad.mit.edu	37	16	30507449	30507449	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:30507449G>A	uc002dyi.4	+	13	1711	c.1535G>A	c.(1534-1536)gGg>gAg	p.G512E	ITGAL_uc002dyj.4_Missense_Mutation_p.G429E|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	512					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity	p.Q511*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	GAGCTGCAGGGGGACCCCGGC	0.577000														69			40		0	0	0.00170553	0	0
FGA	2243	broad.mit.edu	37	4	155507586	155507586	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:155507586C>T	uc003iod.1	-	4	1053	c.995G>A	c.(994-996)gGa>gAa	p.G332E	FGA_uc003ioe.1_Missense_Mutation_p.G332E|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	332					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.T331A(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTTCCAGCTTCCAGTACTTCC	0.567000														20			10		0	0	0.000151284	0	0
CWH43	80157	broad.mit.edu	37	4	49040062	49040062	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:49040062C>T	uc003gyv.3	+	12	1850	c.1668C>T	c.(1666-1668)ctC>ctT	p.L556L	CWH43_uc011bzl.2_Silent_p.L529L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	556					GPI anchor biosynthetic process	integral to membrane		p.L556I(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGATGACCTCGACAGGAAAC	0.363000														38			23		0	0	0.000586117	0	0
SEMA3F	6405	broad.mit.edu	37	3	50220638	50220638	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:50220638G>A	uc003cyj.3	+	10	1236	c.1038G>A	c.(1036-1038)caG>caA	p.Q346Q	SEMA3F_uc003cyk.3_Silent_p.Q315Q	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	346	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TTGTCCAGCAGACCCAGGACG	0.662000														23			24		0	0	0.000878237	0	0
ZNF81	347344	broad.mit.edu	37	X	47776023	47776023	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:47776023C>T	uc022bvq.1	+	4	2227	c.1978C>T	c.(1978-1980)Cat>Tat	p.H660Y	ZNF81_uc010nhy.2_Missense_Mutation_p.H660Y	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	660						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCGCAATATTCATACATGAAA	0.363000														1			5		0	0	0.00116845	0	0
FBXO40	51725	broad.mit.edu	37	3	121342150	121342150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:121342150G>A	uc003eeg.2	+	2	2084	c.1874G>A	c.(1873-1875)aGg>aAg	p.R625K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	625					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAGAAAAAGAGGTATTCCCAT	0.428000														49			29		0	0	0.001512	0	0
CYP3A43	64816	broad.mit.edu	37	7	99457461	99457461	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:99457461G>A	uc003ury.1	+	9	977	c.874G>A	c.(874-876)Gat>Aat	p.D292N	CYP3A43_uc003urx.1_Missense_Mutation_p.D292N|CYP3A43_uc003urz.1_Missense_Mutation_p.D292N|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Missense_Mutation_p.D182N|CYP3A43_uc003usb.1_Missense_Mutation_p.D152N	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	292			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AGCTCTGTCTGATCTGGAGCT	0.433000														69			62		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	2	90458637	90458637	+	RNA	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:90458637A>G	uc010yts.2	+	42		c.5827A>G								Parts of antibodies, mostly variable regions.																		AGATTTTGCAACTTATTACTG	0.512000														478			8		0	0	0.00152264	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291569	141291569	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:141291569C>T	uc022cfj.1	-	0	205	c.205G>A	c.(205-207)Gag>Aag	p.E69K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E69K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	69	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCTCCTCCTCCTCAGGA	0.537000										HNSCC(46;0.14)				1			27		0	0	0.000586117	0	0
PAMR1	25891	broad.mit.edu	37	11	35457605	35457605	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:35457605G>A	uc001mwf.3	-	9	1273	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	PAMR1_uc001mwg.3_Silent_p.A393A|PAMR1_uc010rew.2_Silent_p.A282A|PAMR1_uc010rex.2_Silent_p.A353A	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	393	Sushi 2.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAAAGGGAAGGGCTGGCTTCT	0.572000														15			111		0	0	0.000781405	0	0
PSMA8	143471	broad.mit.edu	37	18	23731865	23731865	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:23731865G>A	uc002kvq.3	+	2	405	c.291G>A	c.(289-291)gtG>gtA	p.V97V	PSMA8_uc002kvo.3_Silent_p.V53V|PSMA8_uc002kvp.3_Silent_p.V91V|PSMA8_uc002kvr.3_Silent_p.V65V	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	97					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity	p.R96S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GAGCCCGTGTGGAGTGCCAGA	0.368000														22			16		0	0	0.000308642	0	0
HSPG2	3339	broad.mit.edu	37	1	22169905	22169905	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:22169905G>A	uc009vqd.3	-	65	8686	c.8646C>T	c.(8644-8646)aaC>aaT	p.N2882N	HSPG2_uc001bfj.3_Silent_p.N2881N	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2881	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGACACCTGGTTCAGCCTCA	0.652000														12			11		0	0	0.00136819	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	C	C	rs148060711	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000														39			4		0	0	0.000602214	0	0
GPM6A	2823	broad.mit.edu	37	4	176572994	176572994	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:176572994G>A	uc003iuf.3	-	3	1336	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	GPM6A_uc011ckj.2_Missense_Mutation_p.R171C|GPM6A_uc003iug.3_Missense_Mutation_p.R178C|GPM6A_uc003iuh.3_Missense_Mutation_p.R167C	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	178						cell surface|integral to membrane		p.R178C(2)|p.L177F(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CCAAACTGACGAAGGTCCAAG	0.433000														30			25		0	0	0.00178596	0	0
SCN2B	6327	broad.mit.edu	37	11	118039345	118039345	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:118039345G>A	uc001psf.2	-	1	383	c.192C>T	c.(190-192)tcC>tcT	p.S64S		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	64	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TCCAGTTCAGGGAGAACTGTT	0.587000														30			67		0	0	0.000781405	0	0
TUBBP5	643224	broad.mit.edu	37	9	141070139	141070139	+	Missense_Mutation	SNP	C	T	T	rs143443709	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:141070139C>T	uc010ncq.3	+	3	1219	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.L85F(2)									CGGGCAGGTCCTCAGGCCAGA	0.667000														23			4		0	0	0.00116845	0	0
GRM4	2914	broad.mit.edu	37	6	34003584	34003584	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:34003584G>A	uc003oir.4	-	7	2666	c.2303C>T	c.(2302-2304)aCc>aTc	p.T768I	GRM4_uc011dsn.2_Missense_Mutation_p.T721I|GRM4_uc010jvh.3_Missense_Mutation_p.T768I|GRM4_uc010jvi.3_Missense_Mutation_p.T460I|GRM4_uc003oio.3_Missense_Mutation_p.T460I|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.T628I|GRM4_uc003oiq.3_Missense_Mutation_p.T635I|GRM4_uc011dsm.2_Missense_Mutation_p.T599I	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	768					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGCATACACGGTGCACGTGAC	0.602000														29			12		0	0	0.00136819	0	0
SVEP1	79987	broad.mit.edu	37	9	113173450	113173450	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:113173450C>T	uc010mtz.3	-	36	6878	c.6541G>A	c.(6541-6543)Gaa>Aaa	p.E2181K	SVEP1_uc010mty.3_Missense_Mutation_p.E107K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2181	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CTCTTCTTTTCCCCTTTGATG	0.507000														5			14		0	0	0.000308642	0	0
GRIN2B	2904	broad.mit.edu	37	12	13768519	13768519	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:13768519T>C	uc001rbt.2	-	5	1587	c.1408A>G	c.(1408-1410)Aaa>Gaa	p.K470E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	470					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCACAGATTTAGAAATTTTC	0.398000														27			145		0	0	0.000781405	0	0
UNC13C	440279	broad.mit.edu	37	15	54860061	54860061	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:54860061C>T	uc021smr.1	+	27	6016	c.6016C>T	c.(6016-6018)Cag>Tag	p.Q2006*	UNC13C_uc021sms.1_Nonsense_Mutation_p.Q2008*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	2008	MHD2.				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)		CCCAGATCTTCAGTCTCTGAG	0.373000														2			5		0	0	0.000602214	0	0
NBEAL1	65065	broad.mit.edu	37	2	204073993	204073994	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:204073993_204073994GG>TT	uc002uzt.3	+	51	7979_7980	c.7646_7647GG>TT	c.(7645-7647)tgg>tTT	p.W2549F	NBEAL1_uc021vvj.1_Missense_Mutation_p.W1183F|NBEAL1_uc002uzu.3_Missense_Mutation_p.W44F	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2549							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCTATATCTTGGGAAGGACATA	0.411000														587			17		0	0	6.4e-05	0	0
PRKCZ	5590	broad.mit.edu	37	1	2103567	2103567	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:2103567C>T	uc001aiq.3	+	11	1296	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	PRKCZ_uc001air.3_Silent_p.L196L|PRKCZ_uc010nyw.2_Silent_p.L275L|PRKCZ_uc001ais.3_Silent_p.L196L|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Silent_p.L227L	NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	379	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GGACCTGAAGCTGGACAACGT	0.627000														18			12		0	0	0.000978159	0	0
LCT	3938	broad.mit.edu	37	2	136566649	136566649	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:136566649G>A	uc002tuu.1	-	7	3279	c.3268C>T	c.(3268-3270)Cca>Tca	p.P1090S		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1090	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCCTATATGGTGCCCAGCCT	0.532000														24			20		0	0	0.00152264	0	0
SZT2	23334	broad.mit.edu	37	1	43896717	43896717	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:43896717C>T	uc001cjk.2	+	31	4785	c.2175C>T	c.(2173-2175)ccC>ccT	p.P725P		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1624						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGACTTTGCCCCTGGAAGTGG	0.617000														35			25		0	0	0.000586117	0	0
MTMR6	9107	broad.mit.edu	37	13	25826045	25826045	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:25826045G>A	uc001uqf.4	-	11	1743	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F	MTMR6_uc001uqe.1_Missense_Mutation_p.S475F	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	475	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.S475F(2)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTGAGATTCGGAACTGTAGAG	0.328000														121			107		0	0	0.000781405	0	0
HEATR2	54919	broad.mit.edu	37	7	780536	780537	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:780536_780537CC>TT	uc010krz.1	+	2	881_882	c.861_862CC>TT	c.(859-864)atccct>atTTct	p.P288S	HEATR2_uc003siz.2_Missense_Mutation_p.P156S	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	288							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		ACAAGCTCATCCCTCTGCTGCT	0.639000														68			53		0	0	6.4e-05	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125367393	125367393	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:125367393C>T	uc010flu.3	+	11	2136	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	CNTNAP5_uc002tno.3_Missense_Mutation_p.S590F	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	590	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACGAGCAATCCTGCGAGGTG	0.507000														21			21		0	0	0.00047179	0	0
ZNF135	7694	broad.mit.edu	37	19	58574891	58574891	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58574891C>T	uc002qrg.3	+	2	277	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	ZNF135_uc021vct.1_Missense_Mutation_p.P92S|ZNF135_uc002qre.3_Missense_Mutation_p.P80S|ZNF135_uc002qrf.3_Missense_Mutation_p.P38S|ZNF135_uc010yhq.2_Missense_Mutation_p.P80S|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Missense_Mutation_p.P92S|ZNF135_uc021vcu.1_Missense_Mutation_p.P92S	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	80					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTCTAGACTTCCCCAAGGCGT	0.567000														25			19		0	0	0.000958276	0	0
PRDM14	63978	broad.mit.edu	37	8	70981495	70981495	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:70981495C>A	uc003xym.3	-	1	803	c.601G>T	c.(601-603)Gac>Tac	p.D201Y		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E200Q(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AAGTGCAGGTCCTCCTCCGTG	0.602000														29			32		4.31634e-10	2.56213e-09	0.000409698	1	0
KDM6B	23135	broad.mit.edu	37	17	7752206	7752206	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7752206C>T	uc002gix.3	+	0	1343	c.506C>T	c.(505-507)tCg>tTg	p.S169L	KDM6B_uc002giw.1_Missense_Mutation_p.S867L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	867					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCTGCTTCCTCGTCATCTCAG	0.716000														15			9		0	0	0.000274275	0	0
MAP1B	4131	broad.mit.edu	37	5	71493252	71493252	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:71493252C>T	uc003kbw.4	+	4	4311	c.4070C>T	c.(4069-4071)cCa>cTa	p.P1357L	MAP1B_uc010iyw.1_Missense_Mutation_p.P1374L|MAP1B_uc010iyx.1_Missense_Mutation_p.P1231L|MAP1B_uc010iyy.1_Missense_Mutation_p.P1231L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1357						microtubule|microtubule associated complex	structural molecule activity	p.P1357T(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAACCACCAGCAGTTCCA	0.483000														39			28		0	0	0.001512	0	0
LIPC	3990	broad.mit.edu	37	15	58855876	58855876	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:58855876C>T	uc010bga.2	+	9	1950	c.1342C>T	c.(1342-1344)Ctc>Ttc	p.L448F	LIPC_uc010bfz.1_Missense_Mutation_p.L448F|LIPC_uc002afa.2_Missense_Mutation_p.L448F|LIPC_uc010bgb.1_Missense_Mutation_p.L346F|LIPC_uc010ugy.2_Missense_Mutation_p.L387F	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	448	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CCACTCAGGCCTCGTTCTGAA	0.527000														14			6		0	0	0.00116845	0	0
MYO9A	4649	broad.mit.edu	37	15	72190481	72190481	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:72190481G>A	uc002atl.4	-	24	4836	c.4363C>T	c.(4363-4365)Ctt>Ttt	p.L1455F	MYO9A_uc010biq.3_Missense_Mutation_p.L1075F|MYO9A_uc002atn.1_Missense_Mutation_p.L1436F|MYO9A_uc002atk.3_Missense_Mutation_p.L179F|MYO9A_uc002atm.1_Missense_Mutation_p.L179F	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1455	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCAAAGTAAGAGCTTCCCCC	0.393000														27			20		0	0	0.00152264	0	0
C18orf34	374864	broad.mit.edu	37	18	30926193	30926194	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:30926193_30926194GG>AA	uc010xbr.1	-	7	781_782	c.639_640CC>TT	c.(637-642)ctccca>ctTTca	p.P214S	C18orf34_uc002kxn.2_Missense_Mutation_p.P214S|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.P214S|C18orf34_uc002kxp.3_Missense_Mutation_p.P214S	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	214								p.P214S(3)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ACAGCCAATGGGAGTTCTTGAA	0.347000														41			22		0	0	6.4e-05	0	0
PKD1L1	168507	broad.mit.edu	37	7	47921678	47921678	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:47921678C>T	uc003tny.2	-	19	3305	c.3271G>A	c.(3271-3273)Gac>Aac	p.D1091N		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1091	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGCTGGTGTCCTTAGCTAGG	0.453000														34			18		0	0	0.000229342	0	0
SALL3	27164	broad.mit.edu	37	18	76754350	76754350	+	Missense_Mutation	SNP	G	A	A	rs2974290		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:76754350G>A	uc002lmt.3	+	1	2359	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	SALL3_uc010dra.3_Missense_Mutation_p.D394N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	787				D -> N (in Ref. 2; CAB65124).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCCTACGACGACAAGAACGC	0.647000														9			7		0	0	0.000157383	0	0
GPR115	221393	broad.mit.edu	37	6	47680197	47680197	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47680197C>T	uc003oyz.1	+	5	576	c.576C>T	c.(574-576)atC>atT	p.I192I	GPR115_uc003oza.1_Silent_p.I135I|GPR115_uc003ozb.1_Silent_p.I135I|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	135					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTCAAGGAATCCGTAAGAACT	0.418000														63			25		0	0	0.000720815	0	0
SSFA2	6744	broad.mit.edu	37	2	182780654	182780654	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:182780654G>A	uc002uoi.3	+	10	2609	c.2287G>A	c.(2287-2289)Gag>Aag	p.E763K	SSFA2_uc002uoh.3_Missense_Mutation_p.E763K|SSFA2_uc002uoj.3_Missense_Mutation_p.E763K|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.E610K|SSFA2_uc002uol.3_Missense_Mutation_p.E610K|SSFA2_uc002uom.3_Missense_Mutation_p.E231K	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	763						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TCCAGGAAAAGAGACCAGATG	0.468000														37			23		0	0	0.00047179	0	0
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:140481411C>T	uc003vwc.4	-	10	1458	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	466	Protein kinase.		G -> A (in melanoma).|G -> E (in melanoma).|G -> V (in LNCR).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G466V(35)|p.G466E(12)|p.G466A(5)|p.G466R(3)|p.S465S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCAAATGATCCAGATCCAAT	0.378000	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					47			36		0	0	0.000814825	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588217	118588217	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:118588217C>T	uc003pxx.4	+	3	738	c.537C>T	c.(535-537)atC>atT	p.I179I		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	179					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCCTGCTGATCCGGTACAAGG	0.517000														21			60		0	0	0.000781405	0	0
P2RX3	5024	broad.mit.edu	37	11	57135900	57135900	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:57135900C>A	uc001nju.3	+	9	1176	c.992C>A	c.(991-993)tCt>tAt	p.S331Y		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	331					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GCCTTTACTTCTGTGGGAGTG	0.612000														59			37		1.30998e-17	7.84529e-17	0.00111076	1	0
OR4K2	390431	broad.mit.edu	37	14	20344554	20344554	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20344554G>A	uc001vwh.1	+	0	128	c.128G>A	c.(127-129)aGc>aAc	p.S43N		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTGGGTAACAGCCTCATAGTC	0.398000														138			43		0	0	0.000437636	0	0
BICC1	80114	broad.mit.edu	37	10	60562907	60562907	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:60562907C>T	uc001jki.1	+	14	2086	c.2086C>T	c.(2086-2088)Cca>Tca	p.P696S	BICC1_uc001jkj.1_Missense_Mutation_p.P337S	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	696					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CAAGAAGGCTCCAGGGAGTGA	0.532000														12			13		0	0	0.000308642	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113656944	113656944	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:113656944G>A	uc003eaq.4	+	14	1721	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.E382K|GRAMD1C_uc003eas.3_Missense_Mutation_p.E344K|GRAMD1C_uc003eat.3_Missense_Mutation_p.E208K	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	549						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAAGAAAAAGGAAATGGAAAA	0.289000														17			14		0	0	0.000958276	0	0
MYH2	4620	broad.mit.edu	37	17	10443353	10443353	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:10443353C>T	uc010coi.3	-	11	1167	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E347K|MYH2_uc010coj.3_Missense_Mutation_p.E347K	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	347	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E347K(2)		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						ACCTTTTCTTCATTAGTAAAG	0.423000														43			39		0	0	0.00128727	0	0
AFF2	2334	broad.mit.edu	37	X	147743491	147743491	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:147743491G>A	uc004fcp.3	+	2	722	c.243G>A	c.(241-243)atG>atA	p.M81I	AFF2_uc004fco.3_Missense_Mutation_p.M77I|AFF2_uc004fcq.3_Missense_Mutation_p.M77I|AFF2_uc004fcr.3_Missense_Mutation_p.M77I|AFF2_uc011mxb.2_Missense_Mutation_p.M81I|AFF2_uc004fcs.3_Missense_Mutation_p.M77I	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	81					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGATGAAATGAAGAATTTGC	0.403000														13			75		0	0	0.000781405	0	0
THBS1	7057	broad.mit.edu	37	15	39874510	39874510	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:39874510G>A	uc001zkh.3	+	2	363	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	62	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TTTCCGCATCGAGGATGCCAA	0.617000														29			13		0	0	0.000151284	0	0
GOLGA1	2800	broad.mit.edu	37	9	127684102	127684102	+	Missense_Mutation	SNP	G	A	A	rs149867372		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:127684102G>A	uc004bpc.3	-	8	973	c.631C>T	c.(631-633)Cgt>Tgt	p.R211C	GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Missense_Mutation_p.R186C	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	211						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TCCTGGGTACGACTAAGTTCT	0.418000														15			40		0	0	0.00128727	0	0
USP4	7375	broad.mit.edu	37	3	49362330	49362330	+	Silent	SNP	A	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:49362330A>C	uc003cwq.2	-	4	709	c.630T>G	c.(628-630)ggT>ggG	p.G210G	USP4_uc003cwr.2_Silent_p.G210G|USP4_uc021wxv.1_Silent_p.G210G	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	210					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CTCCTACCTGACCCTGGTATA	0.547000														76			50		0	0	0.000781405	0	0
FASTKD1	79675	broad.mit.edu	37	2	170428488	170428488	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:170428488G>A	uc002uev.4	-	1	440	c.52C>T	c.(52-54)Cta>Tta	p.L18L	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Silent_p.L4L|FASTKD1_uc002uey.2_Silent_p.L4L	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	18					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						ATAGCTCTTAGACGAAGCATA	0.363000														36			30		0	0	0.000409698	0	0
PTAFR	5724	broad.mit.edu	37	1	28476903	28476903	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:28476903G>A	uc009vte.3	-	2	965	c.630C>T	c.(628-630)atC>atT	p.I210I	PTAFR_uc021ojz.1_Silent_p.I210I|PTAFR_uc001bpl.3_Silent_p.I210I|PTAFR_uc001bpm.4_Silent_p.I210I|PTAFR_uc021oka.1_Silent_p.I210I	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	210					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAGGTACGGATGATGACCA	0.567000														10			11		0	0	0.000978159	0	0
IDO1	3620	broad.mit.edu	37	8	39785614	39785614	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:39785614G>A	uc003xnm.3	+	9	1236	c.1122G>A	c.(1120-1122)ctG>ctA	p.L374L		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	374					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CTTCAAAACTGGAAGCCAAAG	0.438000														14			10		0	0	0.000978159	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98735349	98735349	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:98735349G>A	uc010mry.1	+	14	3543	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	ERCC6L2_uc004avu.3_Missense_Mutation_p.E397K|ERCC6L2_uc010msa.2_Missense_Mutation_p.E87K|ERCC6L2_uc011lun.1_Missense_Mutation_p.E87K			Q5T890	RAD26_HUMAN	Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										GCAGTCGTATGAATCAATGGA	0.279000														0			4		0	0	0.000602214	0	0
UBL7	84993	broad.mit.edu	37	15	74743820	74743820	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:74743820G>A	uc002axw.1	-	4	591	c.429C>T	c.(427-429)atC>atT	p.I143I	UBL7_uc002axx.1_Silent_p.I183I|UBL7_uc002axy.1_Silent_p.I143I|UBL7_uc002axz.1_Silent_p.I143I	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	143							protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TGGCCACAATGATCTGATCCA	0.493000														60			35		0	0	0.00111076	0	0
MXRA5	25878	broad.mit.edu	37	X	3239245	3239245	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:3239245G>A	uc004crg.4	-	4	4638	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1494						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGATGGGGACGAGGATGCTGG	0.483000														3			26		0	0	0.000720815	0	0
PARP4	143	broad.mit.edu	37	13	25077796	25077796	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:25077796G>A	uc001upl.3	-	1	225	c.119C>T	c.(118-120)tCg>tTg	p.S40L	PARP4_uc010tdc.2_Missense_Mutation_p.S40L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	40	BRCT.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGATTTAACGAAAAGGAAAA	0.383000														55			27		0	0	0.00127121	0	0
CCNF	899	broad.mit.edu	37	16	2493718	2493718	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:2493718C>T	uc002cqd.1	+	8	934	c.846C>T	c.(844-846)atC>atT	p.I282I	CCNF_uc002cqe.1_5'UTR	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	282					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding	p.I282M(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CCAGTGAGATCGTCTGCCAGC	0.502000														63			42		0	0	0.000680045	0	0
SLC26A4	5172	broad.mit.edu	37	7	107350632	107350632	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:107350632C>T	uc003vep.3	+	18	2447	c.2223C>T	c.(2221-2223)tcC>tcT	p.S741S	SLC26A4_uc011kmb.2_Silent_p.S328S|SLC26A4_uc011kmc.2_Silent_p.S302S|SLC26A4_uc011kmd.2_Silent_p.S310S	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	741					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTCAAGGTTCCATTTTAGAAA	0.348000									Pendred syndrome					24			15		0	0	0.000958276	0	0
GLCCI1	113263	broad.mit.edu	37	7	8095132	8095132	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:8095132C>T	uc003srk.3	+	3	1325	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	256										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)		GGAGAAAGATCGCCAGTCACC	0.423000														35			22		0	0	0.000375601	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891882	18891882	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:18891882G>A	uc001rdy.3	+	0	838	c.680G>A	c.(679-681)aGg>aAg	p.R227K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	227					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGTTTTGCAAGGCTTGTGGAA	0.403000														5			16		0	0	0.000566183	0	0
VCAN	1462	broad.mit.edu	37	5	82817592	82817592	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:82817592C>T	uc003kii.3	+	6	3823	c.3467C>T	c.(3466-3468)cCt>cTt	p.P1156L	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P1156L|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1156	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCTTTGAGTCCTTTTAGTACC	0.393000														38			21		0	0	0.000295444	0	0
DLL4	54567	broad.mit.edu	37	15	41224428	41224428	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:41224428C>T	uc001zng.2	+	5	1055	c.719_splice	c.e5+1	p.L240_splice		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	Homo sapiens delta-like 4 (Drosophila) (DLL4), mRNA.	240	EGF-like 1.				Notch receptor processing|Notch signaling pathway|blood circulation|cell communication|cell differentiation	integral to membrane|plasma membrane	Notch binding|calcium ion binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCAGAGTGCCTGTGAGTAGG	0.582000														38			25		0	0	0.000375601	0	0
EGFR	1956	broad.mit.edu	37	7	55268067	55268067	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:55268067C>T	uc003tqk.3	+	23	3153	c.2907C>T	c.(2905-2907)tcC>tcT	p.S969S	EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	969	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGAATTCTCCAAAATGGCCC	0.483000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				41			36		0	0	0.000437636	0	0
CEP128	145508	broad.mit.edu	37	14	81251542	81251542	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:81251542G>A	uc001xux.2	-	13	2079	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	636						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GGTCCTTGATGGACTCTTGCA	0.478000														48			31		0	0	0.00178596	0	0
NIPBL	25836	broad.mit.edu	37	5	37019442	37019442	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:37019442A>T	uc003jkl.4	+	24	5449	c.4950A>T	c.(4948-4950)caA>caT	p.Q1650H	NIPBL_uc003jkk.4_Missense_Mutation_p.Q1650H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1650					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATCCAACAATTACAAAAAG	0.338000														39			22		0	0	0.00106085	0	0
AKR7A2	8574	broad.mit.edu	37	1	19632545	19632545	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:19632545G>A	uc001bbw.3	-	5	907	c.885C>T	c.(883-885)gcC>gcT	p.A295A		NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	295					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCGGAGGGCAGCCGAGG	0.627000														40			33		0	0	0.00058488	0	0
LAD1	3898	broad.mit.edu	37	1	201356205	201356205	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:201356205C>T	uc001gwm.3	-	2	519	c.284G>A	c.(283-285)cGg>cAg	p.R95Q	LAD1_uc009wzu.1_Missense_Mutation_p.R117Q	NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	95						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCTCTGCCTCCGCTCCTGCCG	0.647000														51			13		0	0	0.000151284	0	0
ADAM11	4185	broad.mit.edu	37	17	42837206	42837206	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:42837206G>A	uc002ihh.3	+	1	178	c.178G>A	c.(178-180)Gga>Aga	p.G60R	ADAM11_uc010wjd.2_5'UTR	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	60					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G59W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GAGCTCCGGGGGAGAGGTCCG	0.697000														11			16		0	0	0.000308642	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160732021	160732021	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:160732021G>A	uc002ubb.4	-	11	1982	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	LY75-CD302_uc010fos.3_Silent_p.S636S|LY75-CD302_uc002ubc.4_Silent_p.S636S|LY75-CD302_uc010fot.2_Silent_p.S636S	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	636					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										CAGGCTTAGGGGATGCTTCTT	0.463000														37			20		0	0	0.000375601	0	0
TRPC7	57113	broad.mit.edu	37	5	135692931	135692931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:135692931C>T	uc003lbn.2	-	1	367	c.145G>A	c.(145-147)Gac>Aac	p.D49N	TRPC7_uc010jef.2_Missense_Mutation_p.D40N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.D49N|TRPC7_uc010jei.2_Missense_Mutation_p.D49N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	49					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAGCCGAGTCCAGGAAGCGC	0.602000														67			34		0	0	0.000814825	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79954353	79954353	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:79954353A>G	uc002kcy.3	+	6	661	c.564A>G	c.(562-564)tcA>tcG	p.S188S	ASPSCR1_uc002kcx.3_Silent_p.S188S|ASPSCR1_uc021ufj.1_Silent_p.S111S|ASPSCR1_uc002kda.3_Silent_p.S111S|ASPSCR1_uc002kdb.1_Silent_p.S111S	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	188							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TGGGCTCGTCAGCGTCGGCTG	0.657000			T	TFE3	alveolar soft part sarcoma									29			18		0	0	0.00074312	0	0
C16orf91	283951	broad.mit.edu	37	16	1476323	1476323	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:1476323G>A	uc010uvd.2	-	2	300	c.300C>T	c.(298-300)aaC>aaT	p.N100N		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CACCTTCCTGGTTGTTGTGGT	0.622000														33			26		0	0	0.000878237	0	0
ACADM	34	broad.mit.edu	37	1	76194104	76194104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:76194104C>T	uc001dgw.4	+	1	479	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	ACADM_uc010orc.1_Missense_Mutation_p.R17C|ACADM_uc010ord.2_5'UTR|ACADM_uc009wbr.3_Missense_Mutation_p.R17C|ACADM_uc010ore.2_Intron|ACADM_uc010orf.2_Intron|ACADM_uc009wbp.3_Missense_Mutation_p.R21C	NM_000016	NP_000007	P11310	ACADM_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-4 to C-12 straight chain (ACADM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	17					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AAGTATTTCTCGTTTTCATTG	0.313000														84			60		0	0	0.000781405	0	0
SWSAP1	126074	broad.mit.edu	37	19	11486272	11486272	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:11486272C>T	uc002mrg.1	+	1	307	c.270C>T	c.(268-270)ccC>ccT	p.P90P		NM_175871	NP_787067	Q6NVH7	CS039_HUMAN	Homo sapiens SWIM-type zinc finger 7 associated protein 1 (SWSAP1), mRNA.	90																	GGCCAGCCCCCTCCCTTCTGC	0.607000														63			46		0	0	0.000680045	0	0
LEPRE1	64175	broad.mit.edu	37	1	43213059	43213059	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:43213059T>A	uc001chx.4	-	13	2052	c.1939A>T	c.(1939-1941)Aga>Tga	p.R647*	LEPRE1_uc001chw.2_Nonsense_Mutation_p.R647*|LEPRE1_uc001chv.2_Nonsense_Mutation_p.R647*	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	647	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCCACGGCTCTTCCACACTGA	0.582000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			25		0	0	0.00106085	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516156	140516156	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140516156G>A	uc003liq.3	+	0	1357	c.1140G>A	c.(1138-1140)atG>atA	p.M380I		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	380	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGTAGGATGATTTGCTCCA	0.488000														46			24		0	0	0.001512	0	0
DGKB	1607	broad.mit.edu	37	7	14613949	14613949	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:14613949C>T	uc003ssz.3	-	18	1848	c.1661G>A	c.(1660-1662)aGc>aAc	p.S554N	DGKB_uc011jxt.2_Missense_Mutation_p.S535N|DGKB_uc003sta.3_Missense_Mutation_p.S554N|DGKB_uc011jxu.2_Missense_Mutation_p.S553N	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	554	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GATTTCTGTGCTGTTTTCAAT	0.343000														71			43		0	0	0.00148497	0	0
IFNG	3458	broad.mit.edu	37	12	68551714	68551714	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:68551714G>A	uc001stw.1	-	2	471	c.345C>T	c.(343-345)ttC>ttT	p.F115F		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	115					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	p.F115F(2)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	TCAGCTTTTCGAAGTCATCTC	0.368000														15			69		0	0	0.000781405	0	0
CLSTN2	64084	broad.mit.edu	37	3	139894811	139894811	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:139894811G>A	uc003etn.3	+	1	318	c.128G>A	c.(127-129)tGg>tAg	p.W43*	CLSTN2_uc003etm.2_Nonsense_Mutation_p.W43*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	43					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAAGCCATGGATCGAGACT	0.353000										HNSCC(16;0.037)				4			10		0	0	0.00136819	0	0
EMR3	84658	broad.mit.edu	37	19	14765810	14765810	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:14765810G>A	uc002mzi.4	-	5	709	c.561C>T	c.(559-561)atC>atT	p.I187I	EMR3_uc010dzp.3_Silent_p.I135I|EMR3_uc010xnv.2_Intron	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	187					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TATCGTTTTGGATTTTCAGGA	0.413000														34			16		0	0	0.000566183	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77359844	77359844	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:77359844G>A	uc002ffc.4	-	12	2370	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	ADAMTS18_uc010chc.1_Missense_Mutation_p.R239W|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R347W	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	651	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGTTGAGCCCGAAAATCCAAG	0.423000														3			9		0	0	0.000274275	0	0
SZT2	23334	broad.mit.edu	37	1	43907442	43907442	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:43907442C>T	uc001cjk.2	+	53	7608	c.4998C>T	c.(4996-4998)gtC>gtT	p.V1666V		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2565						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCGCACTGGTCACCTCAATGG	0.527000														37			19		0	0	0.00121646	0	0
HDLBP	3069	broad.mit.edu	37	2	242173340	242173341	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:242173340_242173341GG>TT	uc002waz.3	-	23	3355_3356	c.3182_3183CC>AA	c.(3181-3183)ccc>cAA	p.P1061Q	HDLBP_uc002wba.3_Missense_Mutation_p.P1061Q|HDLBP_uc021vzg.1_Missense_Mutation_p.P1028Q	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	1061	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATGGTATTTGGGGTCTACAGT	0.465000														135			7		0	0	6.4e-05	0	0
ZFP64	55734	broad.mit.edu	37	20	50701609	50701609	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:50701609C>T	uc002xwk.3	-	8	1774	c.1425G>A	c.(1423-1425)caG>caA	p.Q475Q	ZFP64_uc002xwj.3_Silent_p.Q256Q	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L475fs*45(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCCCGGCCCTGGAAGGCAC	0.627000														60			25		0	0	0.000720815	0	0
RANBP2	5903	broad.mit.edu	37	2	109370326	109370326	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:109370326C>T	uc002tem.4	+	14	2227	c.2101C>T	c.(2101-2103)Cct>Tct	p.P701S		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	701					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCCCTTTCTCCTGAAGAACA	0.313000														122			78		0	0	0.000781405	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552419	21552419	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:21552419C>A	uc003cce.3	-	3	781	c.373G>T	c.(373-375)Gac>Tac	p.D125Y	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	125						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTTGCGCTGTCCTTGGCAGTT	0.463000														27			25		3.01185e-09	1.78386e-08	0.000586117	1	0
POLD1	5424	broad.mit.edu	37	19	50909675	50909675	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:50909675G>A	uc010eny.3	+	10	1396	c.1395G>A	c.(1393-1395)cgG>cgA	p.R465R	POLD1_uc002psb.4_Silent_p.R465R|POLD1_uc002psc.4_Silent_p.R465R|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	465					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTGCTGCGGGAGTACAAGC	0.652000								DNA polymerases (catalytic subunits)						5			6		0	0	0.00116845	0	0
NPBWR2	2832	broad.mit.edu	37	20	62737457	62737457	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:62737457C>T	uc011abt.2	-	0	728	c.728G>A	c.(727-729)cGg>cAg	p.R243Q		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	243						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					AGAGCGGAGCCGCACGGCCCG	0.667000														13			5		0	0	0.000602214	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322957	61322957	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:61322957G>A	uc002lji.3	-	7	1251	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Silent_p.F317F	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	369					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGAAGAATAGGAAAGGGTGAT	0.438000														8			5		0	0	0.00116845	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217281010	217281010	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:217281010T>C	uc002vgc.4	+	3	1172	c.842T>C	c.(841-843)aTg>aCg	p.M281T	SMARCAL1_uc002vgd.4_Missense_Mutation_p.M281T|SMARCAL1_uc010fvg.3_Missense_Mutation_p.M281T	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	281	HARP 1.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		AACTTCAGCATGAATGACTAT	0.433000									Schimke Immuno-Osseous Dysplasia					55			42		0	0	0.000781405	0	0
OR6N2	81442	broad.mit.edu	37	1	158746637	158746637	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158746637C>T	uc010pir.2	-	0	789	c.789G>A	c.(787-789)aaG>aaA	p.K263K		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATAGCTCTTCTTTAGCCGCA	0.443000														39			22		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179588002	179588002	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179588002C>T	uc021vsy.1	-	71	18225	c.18000G>A	c.(17998-18000)ggG>ggA	p.G6000G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G2661G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6927	Ig-like 41.						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)			TTATGGACTTCCCTGGTTCTA	0.378000														9			6		0	0	0.00116845	0	0
KLKB1	3818	broad.mit.edu	37	4	187178468	187178469	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:187178468_187178469CC>AA	uc003iyy.3	+	13	1745_1746	c.1674_1675CC>AA	c.(1672-1677)acccaa>acAAaa	p.Q559K	KLKB1_uc011clc.2_Missense_Mutation_p.Q357K|KLKB1_uc011cld.2_Intron	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	559	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ATAAAATAACCCAACGGATGGT	0.347000														259			9		0	0	6.4e-05	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478362	14478363	+	RNA	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:14478362_14478363GG>AA	uc010xai.2	-	2		c.1201_1202CC>TT								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TGGATTCCAGGGATGAATGATT	0.470000														22			6		0	0	6.4e-05	0	0
F2RL1	2150	broad.mit.edu	37	5	76128862	76128863	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:76128862_76128863GG>TT	uc003keo.3	+	1	605_606	c.430_431GG>TT	c.(430-432)ggg>TTg	p.G144L		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	144					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CTGGATTTATGGGGAAGCTCTT	0.455000														729			15		0	0	6.4e-05	0	0
OTOF	9381	broad.mit.edu	37	2	26703657	26703657	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:26703657C>T	uc002rhk.3	-	14	1927	c.1800G>A	c.(1798-1800)tcG>tcA	p.S600S	OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	600					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTCACCTCCGAGATGGGCG	0.667000														26			13		0	0	0.000219431	0	0
ATP9A	10079	broad.mit.edu	37	20	50273534	50273534	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:50273534C>T	uc002xwg.1	-	13	1449	c.1449G>A	c.(1447-1449)gaG>gaA	p.E483E	ATP9A_uc010gih.1_Silent_p.E347E|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	483					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			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTTCTCGGCCTCAGCCTGAT	0.617000														17			15		0	0	0.000308642	0	0
FAM209B	388799	broad.mit.edu	37	20	55111285	55111285	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:55111285C>T	uc010zzh.2	+	1	387	c.307C>T	c.(307-309)Caa>Taa	p.Q103*	FAM209B_uc002xxz.3_Nonsense_Mutation_p.Q103*	NM_001013646	NP_001013668	Q5JX69	CT107_HUMAN	Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA.	103						integral to membrane											AAAGAAAAATCAAAATGCTTC	0.398000														56			35		0	0	0.000692331	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438604	37438604	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:37438604C>T	uc021ppc.1	+	9	1500	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ANKRD30A_uc001iza.1_Silent_p.F467F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	523						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCAAGGTATTTA	0.299000														37			30		0	0	0.000409698	0	0
PKD1L1	168507	broad.mit.edu	37	7	47851482	47851482	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:47851482G>A	uc003tny.2	-	49	7548	c.7514C>T	c.(7513-7515)tCc>tTc	p.S2505F	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.S232F	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2505					cell-cell adhesion	integral to membrane		p.S2504*(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCCACCAGGGATGAGGGGAC	0.592000														6			4		0	0	0.00024832	0	0
IGLL3P	91353	broad.mit.edu	37	22	25715866	25715866	+	RNA	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:25715866A>G	uc021wnj.1	+	2		c.348A>G								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						TGGAAGGCAGATGGTACCCCC	0.577000														54			37		0	0	0.000589545	0	0
PPYR1	5540	broad.mit.edu	37	10	47087533	47087533	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:47087533G>A	uc001jee.3	+	2	1169	c.750G>A	c.(748-750)aaG>aaA	p.K250K	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.K250K|PPYR1_uc021ppu.1_Silent_p.K250K	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	250					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTTTCACAAGGGCACCTACA	0.597000														102			14		0	0	0.000219431	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131797938	131797938	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:131797938C>T	uc002tsa.1	+	7	1548	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.F343F|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	343	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGAAGGCCTTCGTGAAGGCCC	0.657000														5			7		0	0	0.000157383	0	0
SMO	6608	broad.mit.edu	37	7	128845089	128845089	+	Missense_Mutation	SNP	G	A	A	rs138284001		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:128845089G>A	uc003vor.3	+	2	863	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	SMO_uc003vos.3_5'Flank	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	195					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCAGTGCGAAGTGCCCTTGGT	0.582000			Mis		skin basal cell									29			20		0	0	0.000229342	0	0
GRIK2	2898	broad.mit.edu	37	6	102134192	102134192	+	Silent	SNP	G	A	A	rs145542805	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:102134192G>A	uc003pqp.4	+	5	1208	c.915G>A	c.(913-915)ccG>ccA	p.P305P	GRIK2_uc021zdj.1_Silent_p.P305P|GRIK2_uc003pqn.3_Silent_p.P305P|GRIK2_uc010kcw.3_Silent_p.P305P|GRIK2_uc003pqo.4_Silent_p.P305P|GRIK2_uc021zdk.1_Silent_p.P305P|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	305					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGGCACCTCCGAAACCCGATT	0.393000														5			26		0	0	0.00127121	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107569	6107569	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:6107569C>T	uc010idb.1	-	2	741	c.255G>A	c.(253-255)caG>caA	p.Q85Q	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Silent_p.Q85Q|JAKMIP1_uc003giu.4_Silent_p.Q85Q|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Silent_p.Q85Q|JAKMIP1_uc010ide.3_Silent_p.Q85Q	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	85	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGCGCAGCGCCTGCAGCTCCT	0.677000														21			19		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179542873	179542873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179542873C>T	uc021vsy.1	-	141	30466	c.30241G>A	c.(30241-30243)Gtg>Atg	p.V10081M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6742M|TTN_uc010fre.1_Missense_Mutation_p.V738M|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11008	Glu-rich.						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)			GGTGCTTCCACTTTTTTCGGA	0.363000														39			25		0	0	0.00106085	0	0
NLRC5	84166	broad.mit.edu	37	16	57054760	57054760	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57054760G>A	uc021tiu.1	+	1	263	c.136G>A	c.(136-138)Gag>Aag	p.E46K	NLRC5_uc021tit.1_Missense_Mutation_p.E46K|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	46					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TTCCAGGAACGAGACCTTGGA	0.532000														18			12		0	0	0.000422831	0	0
AKAP1	8165	broad.mit.edu	37	17	55184399	55184399	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:55184399C>T	uc010wnl.2	+	2	1856	c.1574C>T	c.(1573-1575)tCg>tTg	p.S525L	AKAP1_uc002iux.3_Missense_Mutation_p.S525L|AKAP1_uc021uak.1_Missense_Mutation_p.S525L|AKAP1_uc010dcm.3_Missense_Mutation_p.S525L|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	525					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GAGACCAGCTCGAGCCCCAGG	0.572000														69			95		0	0	0.000781405	0	0
SIRT5	23408	broad.mit.edu	37	6	13612059	13612059	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:13612059G>A	uc003nay.3	+	9	1207	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	SIRT5_uc003nax.3_Missense_Mutation_p.E191K|SIRT5_uc011dit.2_Missense_Mutation_p.E281K	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	299	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	NAD+ ADP-ribosyltransferase activity|NAD+ binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GACTCTTCCTGAAGCCCTTGC	0.423000														340			133		0	0	0.000781405	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518410	161518410	+	Silent	SNP	C	T	T	rs147185130	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:161518410C>T	uc001gar.3	-	2	412	c.228G>A	c.(226-228)aaG>aaA	p.K76K	FCGR3A_uc001gas.3_Silent_p.K75K|FCGR3A_uc001gat.4_Silent_p.K40K|FCGR3A_uc009wuh.3_Silent_p.K39K|FCGR3A_uc009wui.3_Silent_p.K40K	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	40	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity	p.K76*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		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)	TCACACTGTCCTTCTCGAGCA	0.552000														124			56		0	0	0.000781405	0	0
ARMCX1	51309	broad.mit.edu	37	X	100807961	100807961	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:100807961C>T	uc022cak.1	+	0	48	c.48C>T	c.(46-48)atC>atT	p.I16I	ARMCX1_uc004ehv.3_Silent_p.I16I|ARMCX1_uc004ehw.3_Silent_p.I16I	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	16						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GTGTGGTTATCGGGGCTGGTG	0.572000														5			26		0	0	0.000878237	0	0
DSCAM	1826	broad.mit.edu	37	21	41465764	41465764	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41465764G>A	uc002yyq.1	-	20	4186	c.3734C>T	c.(3733-3735)tCc>tTc	p.S1245F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1245	Fibronectin type-III 4.				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	p.S1245F(2)		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)				AATTCTGTAGGAAAACGAGTC	0.483000														17			5		0	0	0.000602214	0	0
PKN1	5585	broad.mit.edu	37	19	14581443	14581443	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:14581443G>A	uc002myp.3	+	19	2661	c.2493G>A	c.(2491-2493)gaG>gaA	p.E831E	PKN1_uc002myq.3_Silent_p.E837E	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	831	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCAACGACGAGGTTCGCTACC	0.682000														21			4		0	0	0.000602214	0	0
OR2F1	26211	broad.mit.edu	37	7	143657367	143657367	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143657367T>A	uc003wds.1	+	0	348	c.304T>A	c.(304-306)Ttt>Att	p.F102I		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGCCCAGTTATTTTTCTCCCT	0.527000														60			46		0	0	0.000781405	0	0
ZNF234	10780	broad.mit.edu	37	19	44661600	44661600	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:44661600C>T	uc002oym.3	+	5	1738	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	ZNF234_uc002oyl.4_Silent_p.I477I	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				ACCAGCTGATCCATACCGGTG	0.438000														39			32		0	0	0.00178596	0	0
CDH4	1002	broad.mit.edu	37	20	60503270	60503270	+	Silent	SNP	C	T	T	rs113168761	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:60503270C>T	uc002ybn.2	+	11	1882	c.1794C>T	c.(1792-1794)acC>acT	p.T598T	CDH4_uc002ybr.2_Silent_p.T561T|CDH4_uc002ybp.2_Silent_p.T524T	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	598	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCAGCGGCACCGGGACCCTCC	0.612000														74			42		0	0	0.000781405	0	0
ARSE	415	broad.mit.edu	37	X	2873470	2873470	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:2873470G>A	uc011mhh.2	-	4	830	c.369C>T	c.(367-369)taC>taT	p.Y123Y	ARSE_uc011mhi.2_Silent_p.Y44Y|ARSE_uc004crc.4_Silent_p.Y98Y			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	98					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCGCACAGGGTATCTGCCCG	0.498000														3			10		0	0	0.000442599	0	0
VN1R4	317703	broad.mit.edu	37	19	53770837	53770837	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53770837G>A	uc010ydu.2	-	0	82	c.82C>T	c.(82-84)Cat>Tat	p.H28Y		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	28					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		GAGAGATAATGGAGAAGAACA	0.498000										HNSCC(26;0.072)				42			21		0	0	0.00152264	0	0
NEU1	4758	broad.mit.edu	37	6	31827680	31827680	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:31827680G>A	uc003nxq.4	-	5	1220	c.1064C>T	c.(1063-1065)tCa>tTa	p.S355L		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	355						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TTTCCGCCATGAGGTACCATT	0.612000														347			143		0	0	0.000781405	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655310	139655310	+	Missense_Mutation	SNP	C	T	T	rs138612126	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:139655310C>T	uc011kqv.2	+	7	968	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S	TBXAS1_uc003vvh.3_Missense_Mutation_p.P199S|TBXAS1_uc010lne.3_Missense_Mutation_p.P131S|TBXAS1_uc011kqu.2_Missense_Mutation_p.P150S|TBXAS1_uc003vvi.3_Missense_Mutation_p.P199S|TBXAS1_uc011kqw.2_Missense_Mutation_p.P179S|TBXAS1_uc003vvj.3_Missense_Mutation_p.P199S	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	198			N -> S (in allele CYP5A1*4).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTTTGGCACCCCGGTGGACTC	0.547000														49			32		0	0	0.000339439	0	0
PLB1	151056	broad.mit.edu	37	2	28741348	28741348	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:28741348C>T	uc002rmb.2	+	2	177	c.133C>T	c.(133-135)Cca>Tca	p.P45S	PLB1_uc010ezj.2_Missense_Mutation_p.P45S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	45	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.P45L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAAGAATTCTCCATTCCCATG	0.408000														38			30		0	0	0.000814825	0	0
XKR5	389610	broad.mit.edu	37	8	6690262	6690262	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:6690262G>A	uc022aqv.1	-	1	370	c.219C>T	c.(217-219)ctC>ctT	p.L73L	XKR5_uc003wqq.3_5'UTR|LOC100652791_uc022aqw.1_5'Flank	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	73						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		CAAGCTGTAGGAGGTGCAGCA	0.552000														49			34		0	0	0.00170553	0	0
TP63	8626	broad.mit.edu	37	3	189526244	189526244	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:189526244G>A	uc003fry.2	+	3	597	c.508G>A	c.(508-510)Gac>Aac	p.D170N	TP63_uc003frx.2_Missense_Mutation_p.D170N|TP63_uc003frz.2_Missense_Mutation_p.D170N|TP63_uc010hzc.1_Missense_Mutation_p.D170N|TP63_uc003fsa.2_Missense_Mutation_p.D76N|TP63_uc003fsb.2_Missense_Mutation_p.D76N|TP63_uc003fsc.2_Missense_Mutation_p.D76N|TP63_uc003fsd.2_Missense_Mutation_p.D76N|TP63_uc021xir.1_Missense_Mutation_p.D76N|TP63_uc010hzd.1_Intron|TP63_uc003fse.1_Missense_Mutation_p.D51N	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	170					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D170E(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTCCAACACCGACTACCCAGG	0.647000										HNSCC(45;0.13)				19			17		0	0	0.000422831	0	0
TARBP1	6894	broad.mit.edu	37	1	234573064	234573064	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:234573064G>A	uc001hwd.3	-	12	2189	c.2189C>T	c.(2188-2190)tCt>tTt	p.S730F		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	730					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATAAATTCAGAAATGCTCTC	0.333000														68			115		0	0	0.000781405	0	0
PRIC285	85441	broad.mit.edu	37	20	62200605	62200605	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:62200605G>A	uc002yfm.2	-	4	1876	c.984C>T	c.(982-984)aaC>aaT	p.N328N	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	328				FNR -> SNH (in Ref. 2; BAE46995).	cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTGCTGCGGTTGAACTCCA	0.657000														11			4		0	0	0.00116845	0	0
FOXN3	1112	broad.mit.edu	37	14	89878539	89878539	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:89878539G>A	uc001xxo.4	-	1	419	c.282C>T	c.(280-282)acC>acT	p.T94T	FOXN3_uc001xxn.4_Silent_p.T94T|FOXN3_uc010atk.3_Silent_p.T94T|FOXN3_uc001xxp.2_Silent_p.T94T	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	94					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGGATGGGGGGGTGTCATCGT	0.592000														31			26		0	0	0.000878237	0	0
F13B	2165	broad.mit.edu	37	1	197029611	197029611	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:197029611G>A	uc001gtt.1	-	4	734	c.690C>T	c.(688-690)acC>acT	p.T230T		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	230	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTTCATAGGTTTGCTTTA	0.284000														12			15		0	0	0.000219431	0	0
ZNF627	199692	broad.mit.edu	37	19	11728123	11728123	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:11728123C>T	uc002msk.2	+	3	1013	c.805C>T	c.(805-807)Cat>Tat	p.H269Y		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	269				H -> R (in Ref. 2; AAH98416).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						CATTCGAATCCATGAACGAAC	0.448000														15			7		0	0	8.12818e-05	0	0
FSIP1	161835	broad.mit.edu	37	15	40068663	40068663	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:40068663G>A	uc001zki.3	-	1	281	c.63C>T	c.(61-63)cgC>cgT	p.R21R		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	21										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TGCTCCCAGGGCGTATTCTTG	0.353000														63			39		0	0	0.000437636	0	0
FAT2	2196	broad.mit.edu	37	5	150924933	150924933	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:150924933G>A	uc003lue.4	-	8	5768	c.5755C>T	c.(5755-5757)Cat>Tat	p.H1919Y		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1919					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACAGGATGGATGGTAACA	0.502000														42			43		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202936	140202936	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140202936G>A	uc003lhl.2	+	0	1576	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.E526K|PCDHAC2_uc003lhj.1_Missense_Mutation_p.E526K	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAAGTGGAGCT	0.692000														79			45		0	0	0.000781405	0	0
OR2G3	81469	broad.mit.edu	37	1	247769009	247769009	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247769009G>A	uc010pyz.2	+	0	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACCCTTGTGGGAAACTTCACC	0.448000														121			63		0	0	0.000781405	0	0
MTOR	2475	broad.mit.edu	37	1	11298094	11298094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:11298094G>A	uc001asd.3	-	12	2135	c.2014C>T	c.(2014-2016)Cgc>Tgc	p.R672C		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	672					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACACAGTAGCGAATGTCAGGG	0.552000														30			11		0	0	0.000978159	0	0
IL4	3565	broad.mit.edu	37	5	132010149	132010149	+	Splice_Site	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:132010149A>G	uc003kxk.1	+	2	506	c.136_splice	c.e2-2	p.T46_splice	IL4_uc003kxl.1_Intron	NM_000589	NP_000580	P05112	IL4_HUMAN	Homo sapiens interleukin 4 (IL4), transcript variant 1, mRNA.	46					B cell differentiation|T-helper 2 cell cytokine production|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		GCCTGGACCAAGACTCTGTGC	0.517000														59			30		0	0	0.000692331	0	0
BEST3	144453	broad.mit.edu	37	12	70091527	70091527	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:70091527G>A	uc001svg.3	-	1	279	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	BEST3_uc001svd.2_Missense_Mutation_p.H18Y|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	18						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGTAACCTATGAAATCCAAAA	0.348000														26			116		0	0	0.000781405	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638485	18638485	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:18638485C>T	uc010cqg.1	+	6	1099	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	TRIM16L_uc010vyf.1_Silent_p.L307L|TRIM16L_uc002gug.1_Silent_p.L253L|TRIM16L_uc002guh.1_Silent_p.L253L|TRIM16L_uc002gui.1_Silent_p.L253L|TRIM16L_uc010vyg.1_Silent_p.L253L|TRIM16L_uc010vyh.1_3'UTR	NM_001037330	NP_001032407	Q309B1	TR16L_HUMAN	Homo sapiens tripartite motif containing 16-like (TRIM16L), mRNA.	253						cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTGGAGCCTCCAATGGAACG	0.572000														74			54		0	0	0.000781405	0	0
ARPP21	10777	broad.mit.edu	37	3	35763143	35763143	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:35763143A>T	uc011axy.2	+	11	1152	c.940A>T	c.(940-942)Agc>Tgc	p.S314C	ARPP21_uc003cga.3_Missense_Mutation_p.S294C|ARPP21_uc003cgb.3_Missense_Mutation_p.S348C|ARPP21_uc003cgf.3_Missense_Mutation_p.S149C|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	348						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCGACAGAGCAGCTCAGAAAA	0.537000														10			4		0	0	0.000602214	0	0
ABCC11	85320	broad.mit.edu	37	16	48204118	48204118	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:48204118G>A	uc002eff.1	-	26	4139	c.3789C>T	c.(3787-3789)ttC>ttT	p.F1263F	ABCC11_uc002efg.1_Silent_p.F1263F|ABCC11_uc002efh.1_Intron|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1263	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GCTTTTTGGGGAACTTTGAGA	0.522000														120			79		0	0	0.000781405	0	0
KIF26A	26153	broad.mit.edu	37	14	104641757	104641757	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:104641757C>T	uc001yos.4	+	11	2632	c.2632C>T	c.(2632-2634)Ccc>Tcc	p.P878S		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	878					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGGCCGGAAGCCCTCGCCACC	0.706000														4			6		0	0	8.12818e-05	0	0
LYST	1130	broad.mit.edu	37	1	235860522	235860522	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:235860522G>A	uc001hxj.2	-	45	10600	c.10425C>T	c.(10423-10425)tcC>tcT	p.S3475S	LYST_uc001hxi.2_Silent_p.S699S	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3475					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGCACTGGGGGAACCCACGT	0.473000														50			25		0	0	0.000878237	0	0
PRMT8	56341	broad.mit.edu	37	12	3702313	3702313	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:3702313G>A	uc001qmf.3	+	9	1517	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	PRMT8_uc009zed.3_Missense_Mutation_p.E375K|PRMT8_uc001qmg.3_Missense_Mutation_p.E198K|PRMT8_uc001qmh.3_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	384					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			ACAGCTGTGTGAAACATCTGT	0.522000														4			21		0	0	0.000720815	0	0
MAST2	23139	broad.mit.edu	37	1	46499889	46499889	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:46499889C>T	uc001cov.3	+	27	4102	c.3819C>T	c.(3817-3819)ccC>ccT	p.P1273P	MAST2_uc001cow.3_Silent_p.P1272P|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1273					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GCCTTTCCCCCCGATCTCCCA	0.602000														13			15		0	0	0.000308642	0	0
KLHL13	90293	broad.mit.edu	37	X	117053571	117053571	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:117053571C>T	uc011mtp.2	-	4	625	c.492G>A	c.(490-492)atG>atA	p.M164I	KLHL13_uc004eqk.3_Missense_Mutation_p.M110I|KLHL13_uc004eql.3_Missense_Mutation_p.M161I|KLHL13_uc011mtn.2_Missense_Mutation_p.M1I|KLHL13_uc011mto.2_Missense_Mutation_p.M155I|KLHL13_uc011mtq.2_Missense_Mutation_p.M145I|KLHL13_uc004eqm.3_Missense_Mutation_p.M119I|KLHL13_uc022cde.1_Missense_Mutation_p.M145I	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	161					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GAAGGTTGTCCATATTAAGAG	0.368000														6			51		0	0	0.000781405	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855806	62855806	+	Silent	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:62855806G>T	uc002jey.2	-	10	5074	c.4458C>A	c.(4456-4458)ccC>ccA	p.P1486P	LRRC37A3_uc010wqg.1_Silent_p.P604P|LRRC37A3_uc002jex.1_Silent_p.P463P|LRRC37A3_uc010wqf.1_Silent_p.P524P|LRRC37A3_uc010dek.1_Silent_p.P492P|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1486						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CATTGTTGTTGGGGATAACGG	0.527000														316			10		0.000673444	0.00394229	0.000673444	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117481	99117481	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:99117481C>T	uc003uqv.3	+	3	709	c.585C>T	c.(583-585)ccC>ccT	p.P195P	ZKSCAN5_uc010lfx.3_Silent_p.P195P|ZKSCAN5_uc003uqw.3_Silent_p.P195P|ZKSCAN5_uc003uqx.3_Intron|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	195					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P195L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTTCCCTTCCCCTGAAGGACA	0.532000														55			38		0	0	0.000781405	0	0
SLC25A18	83733	broad.mit.edu	37	22	18064157	18064158	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:18064157_18064158GG>AA	uc002zmp.1	+	4	671_672	c.177_178GG>AA	c.(175-180)gagggc>gaAAgc	p.G60S	SLC25A18_uc010gqx.3_Missense_Mutation_p.G60S|SLC25A18_uc002zmq.1_Missense_Mutation_p.G60S	NM_031481	NP_113669	Q9H1K4	GHC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier), member 18 (SLC25A18), nuclear gene encoding mitochondrial protein, mRNA.	60						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	CTCGGGCGGAGGGCTTCTTCGG	0.634000														51			22		0	0	6.4e-05	0	0
DTNA	1837	broad.mit.edu	37	18	32374194	32374194	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:32374194C>T	uc010dmn.1	+	2	343	c.342C>T	c.(340-342)ttC>ttT	p.F114F	DTNA_uc002kxu.2_Silent_p.F114F|DTNA_uc010xbx.2_Silent_p.F114F|DTNA_uc002kxv.4_Silent_p.F114F|DTNA_uc002kxw.2_Silent_p.F114F|DTNA_uc002kxx.2_Silent_p.F114F|DTNA_uc002kxz.2_Silent_p.F114F|DTNA_uc002kxy.2_Silent_p.F114F|DTNA_uc010dmj.3_Silent_p.F114F|DTNA_uc002kyb.4_Silent_p.F114F|DTNA_uc010dml.3_Silent_p.F114F|DTNA_uc010dmm.3_Silent_p.F114F	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	114	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding	p.F114F(5)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TCCTTAACTTCCTGCTTGCAG	0.468000														43			26		0	0	0.000586117	0	0
AQP6	363	broad.mit.edu	37	12	50368136	50368136	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:50368136G>A	uc001rvr.1	+	1	1125	c.432G>A	c.(430-432)gcG>gcA	p.A144A	AQP6_uc001rvp.1_5'UTR|AQP6_uc001rvq.1_Non-coding_Transcript	NM_001652	NP_001643	Q13520	AQP6_HUMAN	Homo sapiens aquaporin 6, kidney specific (AQP6), mRNA.	144					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGGCCAGGCGGTGGCAGTGG	0.622000											OREG0021809	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		11			60		0	0	0.000781405	0	0
PPFIA4	8497	broad.mit.edu	37	1	203029523	203029523	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:203029523C>T	uc009xaj.3	+	26	3137	c.3137C>T	c.(3136-3138)tCt>tTt	p.S1046F	PPFIA4_uc010pqf.2_Missense_Mutation_p.S628F|PPFIA4_uc001gyz.3_Missense_Mutation_p.S415F|PPFIA4_uc001gza.3_Missense_Mutation_p.S415F|PPFIA4_uc001gzb.1_Missense_Mutation_p.S110F			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	415					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ACCAGCCCCTCTGCCCCACCC	0.592000														37			53		0	0	0.000781405	0	0
SLC22A10	387775	broad.mit.edu	37	11	63067081	63067081	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:63067081C>T	uc009yor.3	+	5	1258	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Silent_p.I190I	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	350						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAAAAGGATCTGTATCCTGG	0.423000														12			6		0	0	8.12818e-05	0	0
POF1B	79983	broad.mit.edu	37	X	84537306	84537306	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:84537306G>A	uc004eer.2	-	15	1813	c.1667C>T	c.(1666-1668)cCa>cTa	p.P556L	POF1B_uc004ees.3_Missense_Mutation_p.P556L	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	556							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GCCTAGGATTGGATATTGTGT	0.378000														0			4		0	0	0.000602214	0	0
FAIM	55179	broad.mit.edu	37	3	138351881	138351881	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:138351881T>C	uc003esr.3	+	4	760	c.500T>C	c.(499-501)cTc>cCc	p.L167P	FAIM_uc003esq.3_Missense_Mutation_p.L189P|FAIM_uc003esp.3_Missense_Mutation_p.L201P|FAIM_uc003ess.3_Missense_Mutation_p.L167P	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	167					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ATTCATACTCTCATTGTGGAT	0.363000														47			157		0	0	0.000781405	0	0
CLSTN2	64084	broad.mit.edu	37	3	140282952	140282952	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:140282952G>A	uc003etn.3	+	15	2822	c.2632G>A	c.(2632-2634)Gat>Aat	p.D878N		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	878					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGACTGGGACGATTCTGCGCT	0.582000										HNSCC(16;0.037)				23			42		0	0	0.000781405	0	0
METRNL	284207	broad.mit.edu	37	17	81052232	81052232	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:81052232G>A	uc002kgh.3	+	3	973	c.848G>A	c.(847-849)gGc>gAc	p.G283D	METRNL_uc002kgi.3_Missense_Mutation_p.G201D	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	283						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCGCGGCTCGGCTGTGCCCCA	0.672000														22			24		0	0	0.000375601	0	0
ASXL3	80816	broad.mit.edu	37	18	31318854	31318854	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:31318854G>A	uc010dmg.1	+	10	1541	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	ASXL3_uc002kxq.2_Missense_Mutation_p.E203K	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	496					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						AGCACCTCCTGAAGATAACTT	0.388000														20			14		0	0	0.000422831	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6043934	6043934	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:6043934C>T	uc010idb.1	-	16	2535	c.2049G>A	c.(2047-2049)ggG>ggA	p.G683G	JAKMIP1_uc010idc.1_Silent_p.G498G|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	454					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGGCCTCGGTCCCCTCTATTT	0.557000														44			33		0	0	0.000692331	0	0
FCN1	2219	broad.mit.edu	37	9	137803076	137803076	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:137803076C>T	uc004cfi.3	-	7	725	c.636G>A	c.(634-636)gaG>gaA	p.E212E		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	212	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GGTGGTTGCCCTCAAAGTCCA	0.527000														25			98		0	0	0.000781405	0	0
CALML3	810	broad.mit.edu	37	10	5567427	5567427	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:5567427C>T	uc001iie.1	+	0	504	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	127	EF-hand 4.						calcium ion binding	p.R127W(2)		endometrium(3)|lung(2)	5						CGAGATGATCCGGGCCGCGGA	0.667000														17			15		0	0	0.000422831	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74715179	74715179	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:74715179C>T	uc001dge.2	+	4	556	c.489C>T	c.(487-489)taC>taT	p.Y163Y	FPGT-TNNI3K_uc001dgc.2_Silent_p.Y163Y|FPGT-TNNI3K_uc001dgd.3_Silent_p.Y163Y|FPGT-TNNI3K_uc001dgf.2_Silent_p.Y62Y	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	62						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										ATTTAAATTACCGCACTGAAA	0.328000														39			23		0	0	0.000878237	0	0
COL11A1	1301	broad.mit.edu	37	1	103352467	103352467	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:103352467G>A	uc001dum.3	-	62	5108	c.4790C>T	c.(4789-4791)tCc>tTc	p.S1597F	COL11A1_uc001duk.3_Missense_Mutation_p.S781F|COL11A1_uc001dul.3_Missense_Mutation_p.S1585F|COL11A1_uc001dun.3_Missense_Mutation_p.S1546F|COL11A1_uc009weh.3_Missense_Mutation_p.S1469F	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1585	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTGTTTCAGGGAATTGAGGGA	0.413000														47			17		0	0	0.00121646	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712962	70712962	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:70712962G>A	uc010ttg.2	-	0	1557	c.906C>T	c.(904-906)gaC>gaT	p.D302D						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ATTCTGGAAGGTCACATTCAT	0.483000														15			16		0	0	0.00074312	0	0
UPF2	26019	broad.mit.edu	37	10	12021116	12021117	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:12021116_12021117GG>TT	uc001ila.3	-	7	2366_2367	c.1892_1893CC>AA	c.(1891-1893)ccc>cAA	p.P631Q	UPF2_uc001ilb.3_Missense_Mutation_p.P631Q|UPF2_uc001ilc.3_Missense_Mutation_p.P631Q|UPF2_uc009xiz.2_Missense_Mutation_p.P631Q	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	631	MIF4G 2.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CAGACATGCAGGGATGCAATGT	0.332000														370			12		0	0	6.4e-05	0	0
RGL1	23179	broad.mit.edu	37	1	183881362	183881362	+	Missense_Mutation	SNP	C	T	T	rs1140534		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:183881362C>T	uc001gqm.3	+	15	2275	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	RGL1_uc010pof.1_Missense_Mutation_p.S375F|RGL1_uc010pog.2_Missense_Mutation_p.S568F|RGL1_uc010poh.2_Missense_Mutation_p.S568F|RGL1_uc001gqo.3_Missense_Mutation_p.S570F|RGL1_uc010poi.2_Missense_Mutation_p.S541F	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	570	Ser-rich.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding	p.G604G(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAGGAGGGCTCCATTACTCCC	0.532000														18			25		0	0	0.000586117	0	0
SPEG	10290	broad.mit.edu	37	2	220356855	220356855	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:220356855T>A	uc010fwg.3	+	39	9484	c.9484T>A	c.(9484-9486)Tat>Aat	p.Y3162N		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3162	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCCCGTTCTATGAGCCAGA	0.577000														24			13		0	0	0.00136819	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170241	32170241	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:32170241G>A	uc003obb.3	-	20	3506	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1123	EGF-like 28.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGGCAGTCAGGACCCCCATAG	0.652000														255			121		0	0	0.000781405	0	0
MS4A4A	51338	broad.mit.edu	37	11	60068515	60068515	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:60068515A>G	uc001noz.3	+	3	507	c.372A>G	c.(370-372)agA>agG	p.R124R	MS4A4A_uc001npa.3_Silent_p.R105R|MS4A4A_uc001npc.3_Silent_p.R124R	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	124						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAGGAATTAGAACTACAAAAG	0.313000														23			20		0	0	0.000295444	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555148	44555149	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:44555148_44555149CC>TT	uc010xdb.2	-	0	1301_1302	c.1065_1066GG>AA	c.(1063-1068)gtggaa>gtAAaa	p.E356K	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	356	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGGACCCCTTCCACGTCGCCGA	0.649000														318			24		0	0	6.4e-05	0	0
NEUROG2	63973	broad.mit.edu	37	4	113436414	113436414	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:113436414C>T	uc003ias.3	-	1	545	c.218G>A	c.(217-219)gGc>gAc	p.G73D	NEUROG2_uc021xqu.1_Missense_Mutation_p.G73D	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	73					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGGCCGGCAGCCCTCCGCACC	0.786000														4			5		0	0	0.000602214	0	0
PELP1	27043	broad.mit.edu	37	17	4586150	4586150	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:4586150G>A	uc002fyi.4	-	3	744	c.518C>T	c.(517-519)tCc>tTc	p.S173F	PELP1_uc010vsf.2_Missense_Mutation_p.S26F	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	173					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GTGGTTCATGGAGATGTCCCG	0.652000														7			5		0	0	0.000602214	0	0
CEP72	55722	broad.mit.edu	37	5	639225	639225	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:639225G>A	uc003jbf.3	+	7	1300	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	410					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)			GTCACACTCGGCTCTACCCGG	0.642000														30			18		0	0	0.000566183	0	0
OR2A5	393046	broad.mit.edu	37	7	143747613	143747613	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:143747613G>A	uc011ktw.2	+	0	119	c.119G>A	c.(118-120)gGa>gAa	p.G40E		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ACCCTGCTGGGAAATGGGGCC	0.512000														28			30		0	0	0.001512	0	0
TMEM63C	57156	broad.mit.edu	37	14	77719684	77719684	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:77719684G>A	uc001xtf.2	+	22	2397	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	TMEM63C_uc010asq.1_Missense_Mutation_p.E729K	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	729						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		GTTTGACATGGAGCCAAGCAG	0.612000														9			9		0	0	0.00136819	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692895	26692895	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:26692895C>T	uc003acb.3	+	3	1207	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	SEZ6L_uc003acd.3_Silent_p.I337I|SEZ6L_uc011akd.2_Silent_p.I337I|SEZ6L_uc003ace.3_Silent_p.I337I|SEZ6L_uc011akc.2_Silent_p.I337I|SEZ6L_uc003acc.3_Silent_p.I337I|SEZ6L_uc003acf.1_Silent_p.I110I|SEZ6L_uc010gvc.1_Silent_p.I110I	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	337	CUB 1.					endoplasmic reticulum membrane|integral to membrane		p.I337T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCTCTCCATCCGCGGGGTGG	0.587000														13			11		0	0	0.000219431	0	0
KLHL6	89857	broad.mit.edu	37	3	183217613	183217613	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:183217613G>A	uc003flr.3	-	3	970	c.912C>T	c.(910-912)atC>atT	p.I304I	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	304										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCCGAAATGATCTGGAAAT	0.522000														10			7		0	0	8.12818e-05	0	0
MYOG	4656	broad.mit.edu	37	1	203055032	203055032	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:203055032C>T	uc001gzd.3	-	0	346	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	20					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						AGGTAGTTTTCCCCATCATAG	0.617000														33			17		0	0	0.00152264	0	0
ITIH1	3697	broad.mit.edu	37	3	52825621	52825621	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52825621G>A	uc003dfs.3	+	20	2613	c.2583G>A	c.(2581-2583)agG>agA	p.R861R	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.R719R|ITIH1_uc021wzg.1_Silent_p.R573R|ITIH1_uc021wzh.1_Silent_p.R573R|ITIH1_uc003dft.3_Intron	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	861	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGGTGGTGAGGAACCGCCGGC	0.582000														19			7		0	0	0.000157383	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41009411	41009411	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:41009411C>T	uc003jmj.4	-	31	3881	c.3391G>A	c.(3391-3393)Gat>Aat	p.D1131N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D686N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1131							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCGATGTCATCTTCTAACTCA	0.502000														31			21		0	0	0.000375601	0	0
FBN2	2201	broad.mit.edu	37	5	127623002	127623002	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:127623002T>C	uc003kuu.3	-	53	7317	c.6878A>G	c.(6877-6879)aAa>aGa	p.K2293R		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2293	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCCTTACCTTTGCACATCTT	0.438000														58			60		0	0	0.000781405	0	0
SOX10	6663	broad.mit.edu	37	22	38374057	38374057	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:38374057T>C	uc003aun.1	-	2	792	c.514A>G	c.(514-516)Aag>Gag	p.K172E	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Missense_Mutation_p.K172E	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	172						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GGCTGGTACTTGTAGTCCGGG	0.677000														12			6		0	0	0.00116845	0	0
STOX1	219736	broad.mit.edu	37	10	70645062	70645062	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:70645062G>A	uc001jos.2	+	2	1597	c.1510G>A	c.(1510-1512)Gga>Aga	p.G504R	STOX1_uc001joq.3_Missense_Mutation_p.G394R|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.G394R	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	504						cytoplasm|nucleolus	DNA binding	p.R503Q(1)		breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTCTCACCGAGGAAGCACAAT	0.448000														30			13		0	0	0.000151284	0	0
SLC26A9	115019	broad.mit.edu	37	1	205884232	205884232	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:205884232G>A	uc001hdp.3	-	21	2566	c.2452C>T	c.(2452-2454)Ctg>Ttg	p.L818L	SLC26A9_uc001hdm.3_Silent_p.L65L|SLC26A9_uc001hdn.3_Silent_p.L65L|SLC26A9_uc001hdo.3_3'UTR|SLC26A9_uc001hdq.3_3'UTR	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	0						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ATTGCGGCCAGGGCCTGACGG	0.612000														43			44		0	0	0.000781405	0	0
GGA2	23062	broad.mit.edu	37	16	23489718	23489718	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:23489718G>A	uc002dlq.3	-	12	1346	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	421	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GTGCTGAGAGGAGGTCCAGCA	0.587000														37			16		0	0	0.000422831	0	0
XIRP1	165904	broad.mit.edu	37	3	39226980	39226980	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:39226980G>A	uc003cjk.2	-	1	4186	c.3957C>T	c.(3955-3957)ccC>ccT	p.P1319P	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Silent_p.P2P|XIRP1_uc021wvz.1_Silent_p.P1319P	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1319	Pro-rich.						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)		TCTTCTTTGGGGGCATGGTGG	0.607000														43			38		0	0	0.000374591	0	0
RAB19	401409	broad.mit.edu	37	7	140125836	140125836	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:140125836C>T	uc010lni.2	+	3	738	c.540C>T	c.(538-540)atC>atT	p.I180I	RAB19_uc011krc.1_Silent_p.I180I	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	180					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AGGAGCTGATCGCGCGCAACA	0.577000														44			36		0	0	0.000692331	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15586583	15586583	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15586583G>A	uc002nbg.3	-	1	1031	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	PGLYRP2_uc002nbf.4_Silent_p.L300L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	300					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TACTGGCTCAGCAAGTGGCTG	0.622000														18			19		0	0	0.00074312	0	0
TEP1	7011	broad.mit.edu	37	14	20873656	20873656	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20873656T>C	uc001vxe.3	-	3	864	c.824A>G	c.(823-825)gAa>gGa	p.E275G	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.E275G	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	275	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGACAGATTTCAAAAATGGC	0.502000														26			21		0	0	0.00121646	0	0
PTPN4	5775	broad.mit.edu	37	2	120720203	120720203	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:120720203C>T	uc002tmf.1	+	23	3063	c.2292C>T	c.(2290-2292)caC>caT	p.H764H	PTPN4_uc010flj.1_Silent_p.H477H|PTPN4_uc010yyr.1_Silent_p.H397H	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	764	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTAAATGTCACCAATATTGGC	0.303000														14			11		0	0	0.000673444	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677733	37677733	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:37677733G>A	uc002ofq.3	-	4	958	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	ZNF585B_uc002ofr.1_Missense_Mutation_p.H50Y	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCCAGTATGAATTTTCTCA	0.408000														51			37		0	0	0.000953801	0	0
SHISA3	152573	broad.mit.edu	37	4	42403133	42403133	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:42403133G>A	uc003gwp.3	+	1	600	c.382G>A	c.(382-384)Gag>Aag	p.E128K		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	128					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GAGACCCAAGGAGCCCTCGCA	0.572000														102			72		0	0	0.000781405	0	0
FST	10468	broad.mit.edu	37	5	52781787	52781787	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:52781787C>T	uc003jpd.3	+	5	1317	c.959C>T	c.(958-960)tCg>tTg	p.S320L	FST_uc003jpc.3_3'UTR	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	320					hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CTAGCCATTTCGGAAGACACC	0.448000														54			62		0	0	0.000781405	0	0
IDUA	3425	broad.mit.edu	37	4	995528	995528	+	Silent	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:995528G>T	uc003gby.3	+	5	739	c.651G>T	c.(649-651)cgG>cgT	p.R217R	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.R170R	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	217					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CCGCCCTGCGGCTGGGAGGCC	0.711000														9			6		1.06961e-07	6.31189e-07	0.000157383	1	0
DCTD	1635	broad.mit.edu	37	4	183836694	183836694	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:183836694C>T	uc003ivf.3	-	1	202	c.28G>A	c.(28-30)Gac>Aac	p.D10N	DCTD_uc003ivg.3_Missense_Mutation_p.D21N|DCTD_uc010irw.3_5'UTR|DCTD_uc003ivh.3_5'UTR	NM_001921	NP_001912	P32321	DCTD_HUMAN	Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA.	10					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.R9L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		AAATAGTCGTCCCGTTTCTTG	0.408000														128			70		0	0	0.000781405	0	0
LGSN	51557	broad.mit.edu	37	6	63991056	63991056	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:63991056C>T	uc003peh.3	-	3	434	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	LGSN_uc003pei.3_Missense_Mutation_p.E134K	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	134					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TTATTCATTTCATTGTCCTTT	0.393000														13			34		0	0	0.000491102	0	0
SLC4A1	6521	broad.mit.edu	37	17	42333174	42333174	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:42333174T>C	uc002igf.4	-	13	1816	c.1667A>G	c.(1666-1668)aAc>aGc	p.N556S	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	556	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	Z disc|basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.N556N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CATCAACACGTTGTAGTTATA	0.537000														85			57		0	0	0.000781405	0	0
ABAT	18	broad.mit.edu	37	16	8868910	8868910	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:8868910A>T	uc002czc.4	+	12	1284	c.1118A>T	c.(1117-1119)aAt>aTt	p.N373I	ABAT_uc002czd.4_Missense_Mutation_p.N373I|ABAT_uc010buh.3_Missense_Mutation_p.N315I|ABAT_uc010bui.3_Missense_Mutation_p.N373I	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	373					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	TTCAGGCCTAATGCTGTGAGT	0.552000														32			31		0	0	0.000409698	0	0
TTC3	7267	broad.mit.edu	37	21	38538329	38538329	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:38538329C>T	uc002yvz.3	+	32	3918	c.3813C>T	c.(3811-3813)ccC>ccT	p.P1271P	TTC3_uc011aee.1_Silent_p.P961P|TTC3_uc002ywa.3_Silent_p.P1271P|TTC3_uc002ywb.3_Silent_p.P1271P|TTC3_uc010gnf.3_Silent_p.P1036P|TTC3_uc002ywc.3_Silent_p.P961P|TTC3_uc002ywd.1_Silent_p.P335P	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1271					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				ATGGGCAACCCAAAGGGGTCT	0.468000														51			41		0	0	0.000374591	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040432	103040432	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:103040432G>A	uc002tbx.3	+	3	716	c.232G>A	c.(232-234)Gac>Aac	p.D78N	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	78					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGTAGTAACGACCTATCTGA	0.438000														9			8		0	0	0.000274275	0	0
OR52R1	119695	broad.mit.edu	37	11	4825248	4825248	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:4825248C>T	uc021qcs.1	-	0	363	c.363G>A	c.(361-363)atG>atA	p.M121I		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCCAGGGCCATAGCCATGA	0.537000														6			20		0	0	0.00121646	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993243	140993243	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:140993243C>T	uc004fbt.3	+	3	377	c.53C>T	c.(52-54)tCc>tTc	p.S18F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_5'Flank	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	18							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGAGTTCCTCTGAGAGT	0.547000										HNSCC(15;0.026)				4			31		0	0	0.00058488	0	0
FAM113B	91523	broad.mit.edu	37	12	47629825	47629825	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:47629825C>T	uc001rpq.3	+	1	1504	c.979C>T	c.(979-981)Cac>Tac	p.H327Y	FAM113B_uc001rpn.3_Missense_Mutation_p.H327Y|FAM113B_uc021qxi.1_Missense_Mutation_p.H327Y	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	327	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					cATTCTCCATCACCAGGGAAT	0.597000														14			70		0	0	0.000781405	0	0
GLRA3	8001	broad.mit.edu	37	4	175649849	175649849	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:175649849C>T	uc003ity.1	-	4	771	c.268_splice	c.e4-1	p.D90_splice	GLRA3_uc003itz.1_Splice_Site_p.D90_splice	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	90					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	ACTCTGTAATCCTATGATAAA	0.398000														25			11		0	0	0.00136819	0	0
LRRC48	83450	broad.mit.edu	37	17	17881042	17881042	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:17881042G>A	uc021trj.1	+	3	509	c.130G>A	c.(130-132)Gat>Aat	p.D44N	LRRC48_uc010vxe.2_Missense_Mutation_p.D44N|LRRC48_uc021tri.1_Missense_Mutation_p.D44N|LRRC48_uc021trk.1_Missense_Mutation_p.D44N	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	44						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CCTCTTCAAGGATGTCCTGTC	0.627000														19			13		0	0	0.000151284	0	0
CD200R1L	344807	broad.mit.edu	37	3	112546307	112546307	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:112546307G>A	uc003dzi.1	-	2	563	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	CD200R1L_uc010hqf.1_Missense_Mutation_p.R92C|CD200R1L_uc011bhw.1_Missense_Mutation_p.R92C	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	113	Ig-like V-type.		R -> L (in dbSNP:rs4682119).			integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TCCACCGGACGAATCTGAAGG	0.458000														30			33		0	0	0.000491102	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69095234	69095234	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:69095234C>T	uc003hdw.4	-	8	823	c.687_splice	c.e8-1	p.K229_splice		NM_182502	NP_872308	Q86T26	TM11B_HUMAN	Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.	229	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AATTATTTTTCCTAGAGGACA	0.323000														15			11		0	0	0.000978159	0	0
RYR2	6262	broad.mit.edu	37	1	237774182	237774182	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:237774182C>T	uc001hyl.1	+	35	4924	c.4804C>T	c.(4804-4806)Cag>Tag	p.Q1602*		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1602	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGCCCAACCAGTTTTTGAA	0.537000														7			16		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTATAGAAGGAAAAATTTCC	0.453000														25			28		0	0	0.00106085	0	0
OR8G2	26492	broad.mit.edu	37	11	124095622	124095622	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:124095622C>T	uc010saf.2	+	0	225	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	75						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TGTACTATTTCCTCAGTGGTC	0.463000														15			35		0	0	0.000814825	0	0
LIPG	9388	broad.mit.edu	37	18	47107876	47107876	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:47107876C>T	uc002ldv.3	+	5	1137	c.885C>T	c.(883-885)ttC>ttT	p.F295F	LIPG_uc002ldu.1_Silent_p.F295F|LIPG_uc010xdh.2_Silent_p.F221F	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	295					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GTTTTGCCTTCCAGTGCACTG	0.498000														77			55		0	0	0.000781405	0	0
C17orf28	283987	broad.mit.edu	37	17	72954844	72954844	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:72954844G>A	uc002jmj.4	-	9	1313	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	C17orf28_uc010wrs.2_Silent_p.F187F	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	388						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTTCAGCACGAAGAAGAGGA	0.612000											OREG0024721	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			15		0	0	0.000422831	0	0
FAM24A	118670	broad.mit.edu	37	10	124672372	124672372	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:124672372G>A	uc001lgv.3	+	2	341	c.220G>A	c.(220-222)Gag>Aag	p.E74K		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	Homo sapiens family with sequence similarity 24, member A (FAM24A), mRNA.	74						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CACCACCATGGAGTCTTGTCC	0.512000														33			31		0	0	0.000409698	0	0
ZNF695	57116	broad.mit.edu	37	1	247151424	247151424	+	Silent	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247151424C>A	uc009xgu.3	-	3	578	c.393G>T	c.(391-393)gtG>gtT	p.V131V	ZNF695_uc001ica.3_Splice_Site|ZNF695_uc001icb.2_Splice_Site|ZNF695_uc009xgt.2_Splice_Site|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	131					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCCACTCACCCACAATTTCCC	0.403000														535			11		0.00136819	0.00798609	0.00136819	1	0
NALCN	259232	broad.mit.edu	37	13	101717857	101717857	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:101717857C>T	uc001vox.1	-	39	4692	c.4503G>A	c.(4501-4503)ctG>ctA	p.L1501L		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1501						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTCCACCTCCAGCCTCCCAC	0.577000														30			26		0	0	0.000586117	0	0
PTPRS	5802	broad.mit.edu	37	19	5212122	5212122	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:5212122G>A	uc002mbv.3	-	31	5143	c.4909C>T	c.(4909-4911)Cag>Tag	p.Q1637*	PTPRS_uc002mbu.1_Nonsense_Mutation_p.Q1206*|PTPRS_uc010xin.2_Nonsense_Mutation_p.Q1179*|PTPRS_uc002mbw.3_Nonsense_Mutation_p.Q1599*|PTPRS_uc002mbx.3_Nonsense_Mutation_p.Q1194*|PTPRS_uc002mby.3_Nonsense_Mutation_p.Q1190*	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1637	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AAGCTGTACTGGTCCTCCGTC	0.602000														29			30		0	0	0.00111076	0	0
TAF1L	138474	broad.mit.edu	37	9	32631150	32631150	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:32631150C>T	uc003zrg.1	-	0	4518	c.4428G>A	c.(4426-4428)gcG>gcA	p.A1476A	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1476	Bromo 1.				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATTGTAGGTCGCACTGTTTT	0.428000														19			55		0	0	0.000781405	0	0
TRPC6	7225	broad.mit.edu	37	11	101374881	101374881	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:101374881C>T	uc001pgk.4	-	1	1244	c.819G>A	c.(817-819)agG>agA	p.R273R	TRPC6_uc009ywy.3_Silent_p.R273R|TRPC6_uc009ywz.1_Silent_p.R273R	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	273					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AGGCATTAATCCTAGATCTGG	0.463000														39			23		0	0	0.000586117	0	0
OBSCN	84033	broad.mit.edu	37	1	228503687	228503687	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:228503687G>A	uc009xez.1	+	49	13196	c.13152G>A	c.(13150-13152)gaG>gaA	p.E4384E	OBSCN_uc001hsn.3_Silent_p.E4384E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4384	Ig-like 45.				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	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase 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)				ACACCTCGGAGAACGCCGAGG	0.677000														6			9		0	0	0.000673444	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725993	168725993	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:168725993C>T	uc021vsc.1	+	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S	B3GALT1_uc002udz.1_Silent_p.S148S	NM_020981	NP_066191	Q9Y5Z6	B3GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 (B3GALT1), mRNA.	148					lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTATTGACTCCTACCATAACC	0.433000														29			18		0	0	0.00121646	0	0
POLE	5426	broad.mit.edu	37	12	133225520	133225520	+	Missense_Mutation	SNP	G	A	A	rs5744904		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:133225520G>A	uc001uks.1	-	31	4188	c.4144C>T	c.(4144-4146)Cgc>Tgc	p.R1382C	POLE_uc001ukr.1_Missense_Mutation_p.R186C|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.R1355C	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1382			R -> C (in dbSNP:rs5744904).		DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCTACCTTGCGATACGAAGCA	0.602000								DNA polymerases (catalytic subunits)						9			55		0	0	0.000781405	0	0
SNRPN	6638	broad.mit.edu	37	15	25220561	25220561	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:25220561C>T	uc021sgb.1	+	2	1111	c.69C>T	c.(67-69)atC>atT	p.I23I	SNRPN_uc001ywp.1_Silent_p.I20I|SNRPN_uc001ywq.1_Silent_p.I20I|SNRPN_uc001ywr.1_Silent_p.I20I|SNRPN_uc001yws.1_Silent_p.I20I|SNRPN_uc001ywt.1_Silent_p.I20I|SNRPN_uc001ywy.1_Silent_p.I20I|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Silent_p.I20I	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	20					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.D23Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGAGATGTATCCTGCAAGATG	0.423000									Prader-Willi syndrome					60			33		0	0	0.00058488	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755684	140755684	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140755684C>T	uc003ljy.2	+	0	2034	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.L678L	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	682					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCAGCCTCGAGCCCTCCG	0.687000														34			28		0	0	0.000814825	0	0
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:192701073C>T	uc002utb.3	-	1	1209	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458000														83			73		0	0	0.000781405	0	0
TRIM55	84675	broad.mit.edu	37	8	67086746	67086746	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:67086746C>T	uc003xvv.3	+	9	1791	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	TRIM55_uc003xvu.3_3'UTR|TRIM55_uc003xvw.3_Missense_Mutation_p.A426V|TRIM55_uc003xvx.3_Missense_Mutation_p.A215V	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	522						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAGGCTGCAGCTCCAGCGAGT	0.478000														55			21		0	0	0.000295444	0	0
ADCY10	55811	broad.mit.edu	37	1	167829070	167829070	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:167829070A>G	uc001ger.3	-	15	2169	c.1871T>C	c.(1870-1872)aTa>aCa	p.I624T	ADCY10_uc010plj.2_Missense_Mutation_p.I471T|ADCY10_uc009wvk.3_Missense_Mutation_p.I532T|ADCY10_uc009wvl.3_Missense_Mutation_p.I623T	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	624					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATAAACAATATTTCCAATTG	0.398000														121			208		0	0	0.000781405	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111600674	111600674	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:111600674C>T	uc003kpv.1	-	5	747	c.473G>A	c.(472-474)gGa>gAa	p.G158E	EPB41L4A_uc003kpw.1_Missense_Mutation_p.G158E	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	158	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGATACATATCCTGCAGTATG	0.333000														85			50		0	0	0.000781405	0	0
NOL6	65083	broad.mit.edu	37	9	33468751	33468751	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:33468751C>T	uc003zsz.3	-	8	1248	c.1147_splice	c.e8+1	p.A383_splice	NOL6_uc003zta.3_Splice_Site_p.A383_splice|NOL6_uc010mjv.3_Splice_Site_p.D383_splice|NOL6_uc011lob.2_Splice_Site_p.A323_splice|NOL6_uc003ztb.1_Splice_Site_p.A383_splice	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	383					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTGCCTCACCCAGAAACTGCA	0.527000														15			77		0	0	0.000781405	0	0
GPS2	2874	broad.mit.edu	37	17	7229762	7229762	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7229762G>A	uc002gga.1	-	4	1205	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	GPS2_uc002ggb.1_Nonsense_Mutation_p.Q400*|GPS2_uc002ggc.1_5'UTR	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTACCTGACTGGAGGTTGGTC	0.597000														42			40		0	0	0.000374591	0	0
OR4B1	119765	broad.mit.edu	37	11	48239049	48239049	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:48239049G>A	uc010rhs.2	+	0	688	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCTGCAGAGGGGAGGCACAA	0.468000														10			6		0	0	8.12818e-05	0	0
SLC1A6	6511	broad.mit.edu	37	19	15072936	15072936	+	Silent	SNP	G	A	A	rs2301853	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15072936G>A	uc002naa.1	-	4	820	c.813C>T	c.(811-813)ctC>ctT	p.L271L	SLC1A6_uc010dzu.1_Silent_p.L271L|SLC1A6_uc010xod.1_Silent_p.L207L|SLC1A6_uc002nab.3_Silent_p.L271L|SLC1A6_uc002nac.3_Silent_p.L271L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	271					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AGAAGACCACGAGGCCCAGGG	0.562000														46			30		0	0	0.000491102	0	0
TTN	7273	broad.mit.edu	37	2	179638821	179638821	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179638821G>A	uc021vsy.1	-	30	7299	c.7074C>T	c.(7072-7074)atC>atT	p.I2358I	TTN_uc021vsz.1_Silent_p.I2312I|TTN_uc021vta.1_Silent_p.I2312I|TTN_uc021vtb.1_Silent_p.I2312I|TTN_uc002unb.2_Silent_p.I2358I|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2358	Ig-like 13.						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)			GTCCTTGTAGGATAGCAATGG	0.423000														33			12		0	0	0.000308642	0	0
TBX4	9496	broad.mit.edu	37	17	59557462	59557462	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:59557462C>T	uc010ddo.3	+	7	966	c.803C>T	c.(802-804)cCc>cTc	p.P268L	TBX4_uc002izi.3_Missense_Mutation_p.P268L|TBX4_uc010woy.2_Missense_Mutation_p.P268L	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	268					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAAGAATACCCCGTGATTTCC	0.597000														47			68		0	0	0.000781405	0	0
USP19	10869	broad.mit.edu	37	3	49149058	49149058	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:49149058C>T	uc003cwd.2	-	19	3102	c.2783G>A	c.(2782-2784)cGg>cAg	p.R928Q	USP19_uc003cwa.3_Missense_Mutation_p.R736Q|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R1031Q|USP19_uc011bcg.2_Missense_Mutation_p.R1019Q|USP19_uc003cwc.2_Missense_Mutation_p.R686Q|USP19_uc011bch.2_Missense_Mutation_p.R1029Q	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	928					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.Y928*(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGCCCACACCCGGGGAAGCCC	0.642000														22			15		0	0	0.000566183	0	0
TC2N	123036	broad.mit.edu	37	14	92268723	92268723	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:92268723G>A	uc001xzu.4	-	3	535	c.344C>T	c.(343-345)tCc>tTc	p.S115F	TC2N_uc001xzt.4_Missense_Mutation_p.S115F|TC2N_uc010auc.3_Missense_Mutation_p.S115F|TC2N_uc001xzv.4_Missense_Mutation_p.S115F	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	115						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)		GGATGAACTGGAAAGTTCTAC	0.413000														31			11		0	0	0.000219431	0	0
DCHS2	54798	broad.mit.edu	37	4	155312327	155312327	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:155312327C>T	uc003inw.2	-	0	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	41					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCTGAGATTTCACAATGGAAT	0.323000														20			4		0	0	0.00024832	0	0
EPN1	29924	broad.mit.edu	37	19	56206167	56206167	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:56206167C>T	uc002qlw.3	+	9	1682	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	EPN1_uc002qlv.3_Missense_Mutation_p.S421F|EPN1_uc010etd.3_Missense_Mutation_p.S446F|EPN1_uc002qlx.3_Missense_Mutation_p.S533F	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	447	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GTCAGGGGATCTCTGGCTGAG	0.687000														20			10		0	0	0.000673444	0	0
RPL4	6124	broad.mit.edu	37	15	66794245	66794245	+	Missense_Mutation	SNP	G	A	A	rs138828871	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:66794245G>A	uc002apv.3	-	4	492	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	RPL4_uc002apx.3_Missense_Mutation_p.R49C|RPL4_uc010ujq.2_Missense_Mutation_p.R143C|RPL4_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TCCTCAATACGATGACCTAAC	0.338000														32			30		0	0	0.00178596	0	0
RBM12	10137	broad.mit.edu	37	20	34243230	34243230	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:34243230G>A	uc021wcr.1	-	0	15	c.15C>T	c.(13-15)atC>atT	p.I5I	CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_5'UTR|CPNE1_uc002xdf.3_5'UTR|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript|RBM12_uc002xdq.3_Silent_p.I5I|RBM12_uc002xds.3_Silent_p.I5I|RBM12_uc002xdr.3_Silent_p.I5I|RBM12_uc021wcq.1_Silent_p.I5I	NM_152838	NP_690051	Q9NTZ6	RBM12_HUMAN	Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.	5						nucleus	RNA binding|nucleotide binding|protein binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CTTGCAAACGGATGACCACAG	0.527000											OREG0004046	type=REGULATORY REGION|Gene=RBM12|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		18			15		0	0	0.00121646	0	0
OR8H3	390152	broad.mit.edu	37	11	55890037	55890037	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55890037C>T	uc001nii.1	+	0	189	c.189C>T	c.(187-189)ttC>ttT	p.F63F		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F63V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGTATTTTTTCCTTACTCACC	0.428000														27			33		0	0	0.00111076	0	0
PIGR	5284	broad.mit.edu	37	1	207105032	207105032	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:207105032G>A	uc001hez.3	-	8	2308	c.2124C>T	c.(2122-2124)tcC>tcT	p.S708S	PIGR_uc009xbz.3_Silent_p.S708S	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	708						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTCCTCCGAGGGATGTCTCCT	0.507000														46			59		0	0	0.000781405	0	0
NUP205	23165	broad.mit.edu	37	7	135282938	135282939	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:135282938_135282939CG>AT	uc003vsw.3	+	14	2288_2289	c.2257_2258CG>AT	c.(2257-2259)cgg>ATg	p.R753M		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	753					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AAGAGCTTACCGGAGAGCAGCT	0.411000														112			5		0	0	6.4e-05	0	0
MS4A3	932	broad.mit.edu	37	11	59837105	59837105	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:59837105C>T	uc001nom.3	+	5	700	c.572C>T	c.(571-573)aCc>aTc	p.T191I	MS4A3_uc001non.3_Missense_Mutation_p.T145I|MS4A3_uc001noo.3_Missense_Mutation_p.T68I	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	191						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				ACCATCTCTACCATAGCCATG	0.433000														158			143		0	0	0.000781405	0	0
SEMG2	6407	broad.mit.edu	37	20	43851778	43851778	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:43851778T>C	uc010ggz.3	+	1	1562	c.1505T>C	c.(1504-1506)gTa>gCa	p.V502A	SEMG2_uc002xnk.3_Missense_Mutation_p.V502A|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	502	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GAAAAGCTAGTAGAAGGCAAG	0.398000														22			10		0	0	0.000442599	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46058080	46058080	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:46058080C>T	uc002zfq.3	+	0	808	c.746C>T	c.(745-747)tCc>tTc	p.S249F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	249						keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GGCCAGAAGTCCAGCTGCTGA	0.672000														17			14		0	0	0.00074312	0	0
IGSF10	285313	broad.mit.edu	37	3	151160963	151160963	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:151160963A>G	uc011bod.2	-	4	5772	c.5772T>C	c.(5770-5772)ggT>ggC	p.G1924G	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1924	Ig-like C2-type 5.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCGCTCCGAACCAGTGGAAC	0.443000														57			28		0	0	0.000409698	0	0
SGIP1	84251	broad.mit.edu	37	1	67155970	67155970	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:67155970C>T	uc001dcr.3	+	16	1758	c.1541C>T	c.(1540-1542)tCc>tTc	p.S514F	SGIP1_uc010opd.2_Missense_Mutation_p.S114F|SGIP1_uc001dcs.3_Missense_Mutation_p.S114F|SGIP1_uc001dct.3_Missense_Mutation_p.S114F|SGIP1_uc009wat.3_Missense_Mutation_p.S308F	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	514					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAACCAATTCCTTGAGCGCA	0.468000														47			50		0	0	0.000781405	0	0
NBR1	4077	broad.mit.edu	37	17	41343492	41343492	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:41343492C>T	uc010whv.2	+	9	1050	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	NBR1_uc010czd.3_Missense_Mutation_p.L323F|NBR1_uc010diz.3_Missense_Mutation_p.L323F|NBR1_uc010whu.2_Missense_Mutation_p.L323F|NBR1_uc010whw.2_Missense_Mutation_p.L302F|NBR1_uc010whx.1_Missense_Mutation_p.L132F	NM_005899	NP_114068	Q14596	NBR1_HUMAN	Homo sapiens neighbor of BRCA1 gene 1 (NBR1), transcript variant 1, mRNA.	323					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TAAAAAGCAGCTTAAACTCCA	0.438000														12			10		0	0	0.000673444	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178749	57178749	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:57178749G>A	uc001smg.1	+	3	795	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	229					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	AAGTTGGAAAGAAGCCCCCAA	0.423000														14			85		0	0	0.000781405	0	0
GPR98	84059	broad.mit.edu	37	5	90046514	90046514	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:90046514G>A	uc003kju.3	+	53	11217	c.11121_splice	c.e53+1	p.V3707_splice	GPR98_uc003kjt.3_Splice_Site_p.V1413_splice|GPR98_uc003kjv.3_Splice_Site_p.V1307_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3707	Calx-beta 24.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTCAGGAGTGGTATGTAATT	0.368000														78			47		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179537416	179537416	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179537416G>A	uc021vsy.1	-	147	31123	c.30898C>T	c.(30898-30900)Cct>Tct	p.P10300S	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6961S|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_5'Flank|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11227	Glu-rich.|Pro-rich.						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)			TTTTCCTCAGGAATTTTCTTT	0.373000														2			3		0	0	0.00024832	0	0
SLC28A2	9153	broad.mit.edu	37	15	45556877	45556877	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:45556877G>A	uc001zva.2	+	6	678	c.613G>A	c.(613-615)Ggc>Agc	p.G205S		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	205					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.S204S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGTGTTTTCGGGCCTAGGTCT	0.418000														39			28		0	0	0.00128727	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153402	133153402	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:133153402G>A	uc003ytj.3	-	9	1664	c.1439C>T	c.(1438-1440)gCc>gTc	p.A480V	KCNQ3_uc003yti.3_Missense_Mutation_p.A360V|KCNQ3_uc010mdt.3_Missense_Mutation_p.A480V	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	480					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAAGCGTAGGCTTTCATGCG	0.483000														48			34		0	0	0.00111076	0	0
ZFHX3	463	broad.mit.edu	37	16	72829797	72829797	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:72829797C>T	uc002fck.3	-	8	7457	c.6784G>A	c.(6784-6786)Gat>Aat	p.D2262N	ZFHX3_uc002fcl.3_Missense_Mutation_p.D1348N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2262					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCATTGGCATCGAAGAAGTCC	0.488000														91			66		0	0	0.000781405	0	0
IL12B	3593	broad.mit.edu	37	5	158753751	158753751	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:158753751C>T	uc003lxr.1	-	1	82	c.40G>A	c.(40-42)Gtt>Att	p.V14I		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	14					T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCAGAAAAACCAGGGAAAAC	0.488000														40			26		0	0	0.001512	0	0
OR6K6	128371	broad.mit.edu	37	1	158725383	158725383	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158725383G>A	uc001fsw.1	+	0	778	c.778G>A	c.(778-780)Ggt>Agt	p.G260S		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTCAGCTGAAGGTCATCACAA	0.473000														74			34		0	0	0.000953801	0	0
NF1	4763	broad.mit.edu	37	17	29509615	29509615	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:29509615C>T	uc002hgg.3	+	7	1203	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	NF1_uc002hge.2_Missense_Mutation_p.L274F|NF1_uc002hgf.2_Missense_Mutation_p.L274F|NF1_uc002hgh.3_Missense_Mutation_p.L274F|NF1_uc010csn.2_Missense_Mutation_p.L134F	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	274					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.L274R(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCATTCTCCTTATCTTGTG	0.373000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				22			21		0	0	0.00152264	0	0
DNAH3	55567	broad.mit.edu	37	16	21048047	21048047	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:21048047T>C	uc010vbe.2	-	34	5074	c.5074A>G	c.(5074-5076)Aaa>Gaa	p.K1692E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1692	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGATAATTTTCCCTATAAAC	0.383000														60			40		0	0	0.000680045	0	0
MKX	283078	broad.mit.edu	37	10	28023534	28023534	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:28023534G>A	uc001ity.4	-	4	914	c.689C>T	c.(688-690)tCt>tTt	p.S230F	MKX_uc001itx.4_Missense_Mutation_p.S230F	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	230					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						ATGTCTCAAAGAGTCATTAAG	0.478000														31			22		0	0	0.000229342	0	0
GTSF1	121355	broad.mit.edu	37	12	54856432	54856432	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:54856432C>T	uc001sgb.3	-	4	408	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	108							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCACCTTTATCCCAGTCTTCA	0.423000														31			147		0	0	0.000781405	0	0
PDE8B	8622	broad.mit.edu	37	5	76645346	76645346	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:76645346C>T	uc003kfa.3	+	7	1024	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	PDE8B_uc003kfd.3_Intron|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.L307F|PDE8B_uc003kfc.3_Missense_Mutation_p.L327F	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	327	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CCGGGCAGACCTTCTCGACAC	0.493000														75			47		0	0	0.000781405	0	0
TLN2	83660	broad.mit.edu	37	15	62993384	62993384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:62993384G>A	uc002alb.4	+	13	1667	c.1667G>A	c.(1666-1668)gGa>gAa	p.G556E		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	556					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.G556A(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATCACGGCCGGAACGGCTTCA	0.433000														30			22		0	0	0.000229342	0	0
ADAM32	203102	broad.mit.edu	37	8	39091502	39091502	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:39091502C>T	uc003xmt.4	+	15	1964	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	ADAM32_uc011lch.2_Silent_p.F474F|ADAM32_uc003xmu.4_Silent_p.F467F|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	573					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTATGCTTTCGTACGAGATT	0.393000														8			5		0	0	0.000602214	0	0
DIDO1	11083	broad.mit.edu	37	20	61511988	61511988	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:61511988G>A	uc002ydr.2	-	15	5632	c.5320C>T	c.(5320-5322)Cca>Tca	p.P1774S	DIDO1_uc002yds.2_Missense_Mutation_p.P1774S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1774	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGCCCCCTTGGTCCCGGGAAA	0.627000														40			29		0	0	0.001512	0	0
C5orf34	375444	broad.mit.edu	37	5	43488032	43488032	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:43488032C>T	uc003jnz.2	-	11	2101	c.1699G>A	c.(1699-1701)Gaa>Aaa	p.E567K		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	567										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGTATCTTTTCAAGTTCAGAA	0.323000														11			10		0	0	0.000442599	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808644	18808644	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:18808644C>T	uc001bax.3	+	0	1221	c.1169C>T	c.(1168-1170)cCa>cTa	p.P390L	KLHDC7A_uc009vpg.3_Missense_Mutation_p.P172L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	390						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCCTGCCCAGACCCGGGC	0.667000														21			17		0	0	0.000958276	0	0
CD180	4064	broad.mit.edu	37	5	66479238	66479238	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:66479238C>T	uc003juy.2	-	2	1581	c.1433G>A	c.(1432-1434)gGg>gAg	p.G478E		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	478					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		AAAGTGATTCCCTTTTAAGTT	0.463000														54			33		0	0	0.00178596	0	0
ADORA3	140	broad.mit.edu	37	1	112106514	112106514	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:112106514C>T	uc001ebg.4	-	0	84	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	RAP1A_uc001ebi.3_Intron	NM_001081976	NP_001075445	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 3, mRNA.	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	GGCTGCTCTTCCCAGGAGCTT	0.557000														69			48		0	0	0.000781405	0	0
MORC1	27136	broad.mit.edu	37	3	108682267	108682267	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:108682267G>A	uc003dxl.3	-	26	2880	c.2793C>T	c.(2791-2793)ctC>ctT	p.L931L	MORC1_uc011bhn.2_Silent_p.L910L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	931					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCACCAGTTGGAGTTTCTGCA	0.378000														37			18		0	0	0.000295444	0	0
OR51M1	390059	broad.mit.edu	37	11	5411135	5411135	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:5411135C>T	uc010qzc.2	+	0	529	c.507C>T	c.(505-507)atC>atT	p.I169I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	169						integral to membrane	olfactory receptor activity	p.I169>?(2)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCCACTATCCCTATTGTCC	0.547000														24			136		0	0	0.000781405	0	0
CDH16	1014	broad.mit.edu	37	16	66944275	66944275	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:66944275G>A	uc002eql.3	-	14	2249	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	CDH16_uc010cdy.3_Silent_p.I663I|CDH16_uc021tjx.1_Silent_p.I646I|CDH16_uc002eqm.3_Silent_p.I588I	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	685	Ectodomain G.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCCACTCACGATCAAGCCAT	0.637000														56			29		0	0	0.000491102	0	0
IL1A	3552	broad.mit.edu	37	2	113535611	113535611	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:113535611G>A	uc002tig.3	-	5	1528	c.568C>T	c.(568-570)Caa>Taa	p.Q190*		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	190					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						ACATACAATTGAGTTTTTGAG	0.378000														31			19		0	0	0.00121646	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53726061	53726062	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:53726061_53726062GG>AA	uc002ehp.3	-	3	509_510	c.445_446CC>TT	c.(445-447)cca>TTa	p.P149L	RPGRIP1L_uc002eho.4_Missense_Mutation_p.P149L|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.P149L|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.P149L|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.P149L|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.P149L	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	149					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				ATTATTGTATGGAGTTTGCCTG	0.396000														350			202		0	0	6.4e-05	0	0
UNC13C	440279	broad.mit.edu	37	15	54306557	54306557	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:54306557C>T	uc021smr.1	+	0	1457	c.1457C>T	c.(1456-1458)tCa>tTa	p.S486L	UNC13C_uc021sms.1_Missense_Mutation_p.S486L	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	486					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)		AGCTCAAAATCACACAGTGCT	0.378000														18			13		0	0	0.00136819	0	0
WNK4	65266	broad.mit.edu	37	17	40939866	40939866	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:40939866C>T	uc002ibj.3	+	7	1880	c.1812C>T	c.(1810-1812)ccC>ccT	p.P604P	WNK4_uc010wgx.2_Silent_p.P268P|WNK4_uc002ibk.1_Silent_p.P376P|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	604					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCTTCAGCCCCCTGGGGGGG	0.637000														47			26		0	0	0.000720815	0	0
SPTA1	6708	broad.mit.edu	37	1	158614107	158614107	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158614107G>A	uc001fst.1	-	29	4473	c.4274C>T	c.(4273-4275)tCc>tTc	p.S1425F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1425					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)					ACTGTCTAAGGAACTTTTGTC	0.423000														10			17		0	0	0.00074312	0	0
OR2T8	343172	broad.mit.edu	37	1	248084465	248084466	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248084465_248084466GG>AA	uc010pzc.2	+	0	146_147	c.146_147GG>AA	c.(145-147)tgg>tAA	p.W49*		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	49			W -> R (in dbSNP:rs11204564).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H48H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGATTCACTGGGACCACCGGC	0.525000														48			13		0	0	6.4e-05	0	0
TTN	7273	broad.mit.edu	37	2	179558353	179558353	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179558353A>G	uc021vsy.1	-	115	28070	c.27845T>C	c.(27844-27846)gTt>gCt	p.V9282A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V5943A|TTN_uc010fre.1_Missense_Mutation_p.V393A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10209	Ig-like 76.						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)			TGGTGGTTCAACCCTTTTGGA	0.284000														8			12		0	0	0.000308642	0	0
USH2A	7399	broad.mit.edu	37	1	215847652	215847652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:215847652C>T	uc001hku.1	-	62	13988	c.13601G>A	c.(13600-13602)gGg>gAg	p.G4534E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4534	Fibronectin type-III 31.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4533S(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGTTCCATCCCTGAGGGTGC	0.507000										HNSCC(13;0.011)				38			58		0	0	0.000781405	0	0
MARCH2	51257	broad.mit.edu	37	19	8503361	8503361	+	Silent	SNP	C	A	A	rs143906987	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:8503361C>A	uc002mjv.3	+	5	1113	c.672C>A	c.(670-672)ccC>ccA	p.P224P	MARCH2_uc002mjw.3_Silent_p.P224P|MARCH2_uc002mjx.3_Silent_p.P154P	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	224					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGACAGCCCCGAGGGCCCCC	0.612000														29			21		1.22574e-08	7.25446e-08	0.000295444	1	0
GOLIM4	27333	broad.mit.edu	37	3	167745545	167745545	+	Silent	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:167745545G>T	uc011bpe.1	-	11	1941	c.1597C>A	c.(1597-1599)Cga>Aga	p.R533R	GOLIM4_uc003ffe.2_Silent_p.R532R|GOLIM4_uc011bpf.1_Silent_p.R505R|GOLIM4_uc011bpg.1_Silent_p.R504R	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	532	Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus		p.R532R(2)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCGGCTTCTCGGGGTCCTTGT	0.468000														143			8		0.000978159	0.00572191	0.000978159	1	0
ZNF83	55769	broad.mit.edu	37	19	53116680	53116680	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53116680T>C	uc002pzu.4	-	1	2382	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	ZNF83_uc002pzv.4_Missense_Mutation_p.K380E|ZNF83_uc010eps.3_Missense_Mutation_p.K352E|ZNF83_uc010ept.3_Missense_Mutation_p.K380E|ZNF83_uc010epu.3_Missense_Mutation_p.K380E|ZNF83_uc010epw.3_Missense_Mutation_p.K380E|ZNF83_uc010epv.3_Missense_Mutation_p.K380E|ZNF83_uc010epx.3_Missense_Mutation_p.K352E|ZNF83_uc010epy.3_Missense_Mutation_p.K380E|ZNF83_uc010epz.3_Missense_Mutation_p.K352E|ZNF83_uc010eqb.2_Missense_Mutation_p.K352E|ZNF83_uc021uyx.1_Missense_Mutation_p.K380E	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	380						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTGAATGCTTTGTCACATTCA	0.383000														46			28		0	0	0.000339439	0	0
HCN1	348980	broad.mit.edu	37	5	45262144	45262144	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:45262144G>C	uc003jok.3	-	7	2577	c.2552C>G	c.(2551-2553)cCc>cGc	p.P851R		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	851						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGGTTCGGGGGGATGGCTCC	0.642000														36			30		0	0	0.00178596	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722081	64722081	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:64722081C>T	uc010nko.3	+	4	1570	c.1503C>T	c.(1501-1503)ccC>ccT	p.P501P		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	490							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATTTCCCCCACCAGAAGG	0.567000														13			47		0	0	0.000781405	0	0
ALPL	249	broad.mit.edu	37	1	21889735	21889735	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:21889735G>A	uc001bet.3	+	4	687	c.430G>A	c.(430-432)Ggg>Agg	p.G144R	ALPL_uc010odo.2_Missense_Mutation_p.G89R|ALPL_uc010odp.2_Missense_Mutation_p.G67R|ALPL_uc010odn.2_Missense_Mutation_p.G92R|ALPL_uc001beu.4_Missense_Mutation_p.G144R	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	144					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G144E(2)|p.G144G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CACCACCCAGGGGAACGAGGT	0.682000														19			14		0	0	0.000308642	0	0
C6orf58	352999	broad.mit.edu	37	6	127898534	127898534	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:127898534G>A	uc003qbh.3	+	0	216	c.204G>A	c.(202-204)ttG>ttA	p.L68L		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	68						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAATCATATTGAATCAGACAG	0.418000														0			25		0	0	0.000586117	0	0
SYT3	84258	broad.mit.edu	37	19	51133319	51133319	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:51133319C>T	uc002pst.3	-	2	1418	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SYT3_uc002psv.3_Missense_Mutation_p.E262K|SYT3_uc010ycd.2_Missense_Mutation_p.E262K	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	262						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTGGCTTTTTCCTCGCCTCCA	0.682000														37			28		0	0	0.001512	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140710915	140710915	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140710915C>T	uc003lji.2	+	0	664	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	PCDHGC5_uc011dan.2_Missense_Mutation_p.R222C	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R222H(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACCAGTCCGTTCAGGGAC	0.493000														28			21		0	0	0.000295444	0	0
METTL23	124512	broad.mit.edu	37	17	74729638	74729639	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:74729638_74729639GG>TT	uc021udk.1	+	4	848_849	c.443_444GG>TT	c.(442-444)tgg>tTT	p.W148F	METTL23_uc002jsr.3_Missense_Mutation_p.W148F|METTL23_uc021udl.1_Missense_Mutation_p.W148F|METTL23_uc021udm.1_Missense_Mutation_p.W81F|METTL23_uc002jst.3_Missense_Mutation_p.W81F|METTL23_uc021udn.1_Missense_Mutation_p.W81F|METTL23_uc002jsu.3_Non-coding_Transcript|MFSD11_uc002jsz.1_5'Flank|MFSD11_uc002jta.2_5'Flank	NM_001206983	NP_001193912	Q86XA0	MET23_HUMAN	Homo sapiens methyltransferase like 23 (METTL23), transcript variant 2, mRNA.	148						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						CTCTACAAATGGGATATGAAAT	0.361000														524			10		0	0	6.4e-05	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205306583	205306583	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:205306583C>T	uc001hcf.1	-	5	1565	c.997G>A	c.(997-999)Ggt>Agt	p.G333S	KLHDC8A_uc010prg.1_Missense_Mutation_p.G220S|KLHDC8A_uc001hcg.1_Missense_Mutation_p.G333S	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	333										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGTTGACACCTCCCACGGCG	0.592000														107			45		0	0	0.000589545	0	0
KCNA7	3743	broad.mit.edu	37	19	49573344	49573344	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49573344C>T	uc002pmg.3	-	1	1703	c.1347G>A	c.(1345-1347)ggG>ggA	p.G449G		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	449						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCAGGTGTTTCCCTGGGGGTG	0.647000														44			25		0	0	0.00127121	0	0
COL21A1	81578	broad.mit.edu	37	6	56044666	56044666	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:56044666C>T	uc003pcs.3	-	2	582	c.350G>A	c.(349-351)gGg>gAg	p.G117E	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.G117E|COL21A1_uc003pcu.1_Missense_Mutation_p.G117E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	117	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GATGGCCTTCCCTGTCTTTGT	0.473000														25			11		0	0	0.00136819	0	0
SUSD4	55061	broad.mit.edu	37	1	223402594	223402594	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:223402594G>A	uc001hnx.3	-	4	1495	c.861C>T	c.(859-861)atC>atT	p.I287I	SUSD4_uc001hny.4_Silent_p.I287I|SUSD4_uc010puw.2_Silent_p.I127I	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	287	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACTGGCAGGTGATGTACTTGT	0.537000														96			36		0	0	0.000437636	0	0
FRMPD2	143162	broad.mit.edu	37	10	49400818	49400818	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:49400818G>A	uc001jgi.3	-	15	2405	c.2074C>T	c.(2074-2076)Cag>Tag	p.Q692*	FRMPD2_uc001jgh.3_Nonsense_Mutation_p.Q660*|FRMPD2_uc001jgj.3_Nonsense_Mutation_p.Q661*	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	692					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCAGCACCCTGAAGCCTGGAT	0.537000														37			35		0	0	0.00128727	0	0
MYO7A	4647	broad.mit.edu	37	11	76892447	76892447	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:76892447C>T	uc001oyb.2	+	22	2988	c.2716C>T	c.(2716-2718)Cgt>Tgt	p.R906C	MYO7A_uc010rsl.2_Missense_Mutation_p.R906C|MYO7A_uc010rsm.1_Missense_Mutation_p.R895C|MYO7A_uc001oyc.2_Missense_Mutation_p.R906C|MYO7A_uc001oyd.3_Missense_Mutation_p.R246C|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.R117C	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	906					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCAGCTGGCTCGTGAGGACGC	0.652000														4			5		0	0	0.000602214	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5146401	5146401	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:5146401C>T	uc003jdl.3	+	2	472	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	ADAMTS16_uc003jdk.1_Silent_p.L112L|ADAMTS16_uc003jdj.1_Silent_p.L112L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	112					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCACATGGATCTGAGGACTTC	0.552000														44			23		0	0	0.000720815	0	0
DNAH17	8632	broad.mit.edu	37	17	76570936	76570936	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:76570936G>A	uc010dhp.2	-	1	329	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGGACTGGGGGAAGCCCAGGC	0.547000														26			40		0	0	0.00170553	0	0
ODZ2	57451	broad.mit.edu	37	5	167626893	167626893	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:167626893C>T	uc010jjd.3	+	16	3160	c.3160C>T	c.(3160-3162)Cct>Tct	p.P1054S	ODZ2_uc003lzr.4_Missense_Mutation_p.P831S|ODZ2_uc003lzt.4_Missense_Mutation_p.P427S|ODZ2_uc010jje.3_Missense_Mutation_p.P325S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AATCGAGCTCCCTGGTTCCAA	0.493000														90			64		0	0	0.000781405	0	0
GPR111	222611	broad.mit.edu	37	6	47649422	47649422	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47649422G>A	uc010jzj.1	+	5	1128	c.1127G>A	c.(1126-1128)aGa>aAa	p.R376K	GPR111_uc003oyy.3_Missense_Mutation_p.R308K	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	376					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAACTTAAAAGAATCTCACTG	0.463000														107			36		0	0	0.000692331	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838655	43838656	+	Missense_Mutation	DNP	GG	AA	AA	rs149115903		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:43838655_43838656GG>AA	uc002zbe.3	+	6	1067_1068	c.983_984GG>AA	c.(982-984)cgg>cAA	p.R328Q	UBASH3A_uc002zbf.3_Missense_Mutation_p.R290Q|UBASH3A_uc010gpe.3_Missense_Mutation_p.R290Q|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript|U6_uc021wjq.1_5'Flank	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	328	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGGCTGCCGGGGCTTCCTGC	0.614000														19			19		0	0	6.4e-05	0	0
RGPD4	285190	broad.mit.edu	37	2	108487596	108487596	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:108487596G>A	uc010ywk.2	+	19	3218	c.3136G>A	c.(3136-3138)Gaa>Aaa	p.E1046K	RGPD4_uc002tdu.3_Missense_Mutation_p.E233K|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1046	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TCAAATGCCTGAAAAAGTAGA	0.388000														159			110		0	0	0.000781405	0	0
MYO3A	53904	broad.mit.edu	37	10	26459434	26459434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:26459434G>A	uc001isn.2	+	28	3724	c.3364G>A	c.(3364-3366)Gaa>Aaa	p.E1122K	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1122					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTCTGATCAGGAATTCGACTA	0.338000														14			9		0	0	0.000442599	0	0
F8	2157	broad.mit.edu	37	X	154134723	154134723	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:154134723A>G	uc004fmt.3	-	14	5516	c.5345T>C	c.(5344-5346)aTa>aCa	p.I1782T	F8_uc010nvi.1_5'UTR	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1782	F5/8 type A 3.|Plastocyanin-like 5.		I -> R (in HEMA; severe sporadic).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.I1782V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTGCTCTTATATATGGCCC	0.338000														13			24		0	0	0.00127121	0	0
CASR	846	broad.mit.edu	37	3	122002653	122002653	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:122002653C>T	uc003eew.4	+	6	2320	c.1882C>T	c.(1882-1884)Ctc>Ttc	p.L628F	CASR_uc003eev.4_Missense_Mutation_p.L618F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	618					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGCACTCACCCTCTTTGCCGT	0.547000														43			25		0	0	0.000375601	0	0
SNCAIP	9627	broad.mit.edu	37	5	121739515	121739515	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:121739515C>T	uc003ksw.1	+	2	291	c.85C>T	c.(85-87)Cca>Tca	p.P29S	SNCAIP_uc011cwl.1_5'UTR|SNCAIP_uc010jct.3_Missense_Mutation_p.P29S|SNCAIP_uc003ksy.1_Silent_p.S13S|SNCAIP_uc003ksx.1_Missense_Mutation_p.P76S|SNCAIP_uc003ksz.1_Silent_p.S13S|SNCAIP_uc010jcu.2_Silent_p.S13S|SNCAIP_uc011cwm.1_Silent_p.S13S|SNCAIP_uc003kta.1_Silent_p.S11S|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.S13S|SNCAIP_uc010jcx.1_Missense_Mutation_p.P29S	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	29					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAAGACGATCCCAGAACTGTG	0.458000														23			19		0	0	0.000229342	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884778	24884778	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:24884778C>T	uc001wpf.4	+	8	4141	c.3823C>T	c.(3823-3825)Ctc>Ttc	p.L1275F		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1275					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATTGGCCCTCCTCCAGGGCCT	0.637000														29			38		0	0	0.00148497	0	0
PLCH1	23007	broad.mit.edu	37	3	155200384	155200384	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:155200384G>A	uc021xge.1	-	22	3732	c.3455C>T	c.(3454-3456)tCt>tTt	p.S1152F	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1114F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1152					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACAAAGAAAAGGATGT	0.443000														30			22		0	0	0.000375601	0	0
SSPO	23145	broad.mit.edu	37	7	149477424	149477424	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:149477424G>A	uc010lpk.3	+	11	1495	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	499	TIL 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTGCAGGGAAGAGTGTGT	0.677000														5			4		0	0	0.00024832	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:5510223C>T	uc010qzg.2	+	0	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGAGATTTCCTTTGGTGGA	0.498000														4			18		0	0	0.00074312	0	0
PCNT	5116	broad.mit.edu	37	21	47783490	47783490	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:47783490G>A	uc002zji.4	+	13	2357	c.2250G>A	c.(2248-2250)acG>acA	p.T750T	PCNT_uc002zjj.3_Silent_p.T632T	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	750	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAAAGAAACGGACTGGAAAG	0.403000														75			52		0	0	0.000781405	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551666	1551666	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:1551666C>T	uc010gai.3	-	3	968	c.869G>A	c.(868-870)gGa>gAa	p.G290E	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	290	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGACACATTTCCATTCTCCAA	0.552000														30			14		0	0	0.000219431	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607446	31607447	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:31607446_31607447CC>TT	uc002wyj.3	+	10	1164_1165	c.970_971CC>TT	c.(970-972)cct>TTt	p.P324F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	324						extracellular region	lipid binding										GGGTGCCACACCTGTGGCCATG	0.673000														18			14		0	0	6.4e-05	0	0
AKR1C3	8644	broad.mit.edu	37	10	5144346	5144346	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:5144346G>A	uc001ihr.3	+	5	807	c.624G>A	c.(622-624)tcG>tcA	p.S208S	AKR1C3_uc021pml.1_Silent_p.S208S|AKR1C3_uc010qap.2_Silent_p.S185S|AKR1C3_uc001ihu.3_Silent_p.S208S	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	208					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.S208S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	TCTGCAAGTCGAAAGATATTG	0.373000														39			23		0	0	0.000878237	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199751	71199751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:71199751G>A	uc001xmm.3	-	10	2335	c.2335C>T	c.(2335-2337)Ccc>Tcc	p.P779S	MAP3K9_uc010ttk.2_Missense_Mutation_p.P507S|MAP3K9_uc001xmk.3_Missense_Mutation_p.P512S|MAP3K9_uc001xml.3_Missense_Mutation_p.P793S	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	779					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCCTCCAGGGGAAGCAGCTGG	0.652000														38			20		0	0	0.000586117	0	0
NXF3	56000	broad.mit.edu	37	X	102335530	102335530	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:102335530C>T	uc004eju.3	-	9	972	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	NXF3_uc010noi.1_Missense_Mutation_p.E151K	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	301	Leu-rich.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGGAACAATTCCAGGATGGAG	0.468000														4			31		0	0	0.00058488	0	0
TPTE2	93492	broad.mit.edu	37	13	20006616	20006616	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:20006616G>A	uc001umd.3	-	16	1430	c.1219C>T	c.(1219-1221)Cgt>Tgt	p.R407C	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R296C|TPTE2_uc001ume.3_Missense_Mutation_p.R330C|TPTE2_uc009zzm.3_Missense_Mutation_p.R78C|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.R78C	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	407	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CACTTACCACGAATCGAATAA	0.388000														21			11		0	0	0.000673444	0	0
LONRF1	91694	broad.mit.edu	37	8	12600738	12600738	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:12600738G>A	uc003wwd.1	-	1	838	c.775C>T	c.(775-777)Caa>Taa	p.Q259*	LONRF1_uc010lsp.1_5'UTR	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	259					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		TTAAACTCTTGGAGACCAGCA	0.294000														14			11		0	0	0.00136819	0	0
KRT37	8688	broad.mit.edu	37	17	39577646	39577646	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39577646C>G	uc002hwp.1	-	5	1261	c.1214G>C	c.(1213-1215)cGg>cCg	p.R405P		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	405	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.R405W(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGAAGGTTCCGGTATGTGGC	0.562000														28			20		0	0	0.000295444	0	0
WNT9B	7484	broad.mit.edu	37	17	44952698	44952698	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:44952698G>A	uc002ikw.1	+	2	603	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	WNT9B_uc002ikx.1_Missense_Mutation_p.R189Q	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	189					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent	p.A188T(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGCGGGCACGGGCAGACGCC	0.617000														13			8		0	0	0.000274275	0	0
MTMR8	55613	broad.mit.edu	37	X	63579383	63579383	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:63579383G>A	uc004dvs.3	-	1	139	c.49C>T	c.(49-51)Cgt>Tgt	p.R17C	MTMR8_uc011mou.2_Missense_Mutation_p.R17C	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	17						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CTCACATAACGATCCACCAAT	0.428000														4			13		0	0	0.000151284	0	0
SOGA1	140710	broad.mit.edu	37	20	35444327	35444327	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:35444327C>T	uc021wcx.1	-	4	1858	c.1518G>A	c.(1516-1518)ggG>ggA	p.G506G	SOGA1_uc002xgd.1_Silent_p.G268G	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	268										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCAAGCTCTCCCCGCACTCTC	0.667000														7			7		0	0	8.12818e-05	0	0
FLG2	388698	broad.mit.edu	37	1	152323424	152323424	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:152323424C>T	uc001ezw.4	-	2	6911	c.6838G>A	c.(6838-6840)Gga>Aga	p.G2280R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2280							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTGAGATCCAGCTTGGCCC	0.512000														48			60		0	0	0.000781405	0	0
KRT16P3	644945	broad.mit.edu	37	17	20405937	20405937	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:20405937C>T	uc002gxb.3	-	4		c.1099G>A								Homo sapiens keratin 16 pseudogene 3 (KRT16P3), non-coding RNA.																		TCTCCAGGCCCTGGAACACCC	0.587000														15			7		0	0	0.000274275	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156634535	156634535	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:156634535T>A	uc003iov.3	+	7	1908	c.1372T>A	c.(1372-1374)Ttt>Att	p.F458I	GUCY1A3_uc010iqc.2_Missense_Mutation_p.F458I|GUCY1A3_uc010iqd.3_Missense_Mutation_p.F457I|GUCY1A3_uc003iow.3_Missense_Mutation_p.F458I|GUCY1A3_uc003iox.3_Missense_Mutation_p.F458I|GUCY1A3_uc010iqe.3_Missense_Mutation_p.F223I|GUCY1A3_uc003ioy.3_Missense_Mutation_p.F458I|GUCY1A3_uc003ioz.3_Missense_Mutation_p.F223I|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.F458I	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	458					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		GTGCTCCATATTTCCCTGTGA	0.522000														8			9		0	0	0.000978159	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91413858	91413858	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:91413858G>A	uc001xys.2	-	3	646	c.431C>T	c.(430-432)tCt>tTt	p.S144F	RPS6KA5_uc010twi.1_Missense_Mutation_p.S65F|RPS6KA5_uc001xyt.3_Missense_Mutation_p.S144F|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	144	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTCTCTTTGAGAAAGATGAGT	0.348000														67			39		0	0	0.00128727	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351593	128351593	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:128351593G>A	uc003kuy.3	+	5	1381	c.985G>A	c.(985-987)Gat>Aat	p.D329N	SLC27A6_uc003kuz.3_Missense_Mutation_p.D329N	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	329					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGGAGAAAAGGATCATAAGGT	0.308000														26			7		0	0	0.000274275	0	0
PRPF8	10594	broad.mit.edu	37	17	1580001	1580001	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:1580001G>A	uc002fte.3	-	15	2300	c.2186C>T	c.(2185-2187)cCt>cTt	p.P729L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	729						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CGGCAGCCCAGGGACCTAAAA	0.557000														66			62		0	0	0.000781405	0	0
VWA2	340706	broad.mit.edu	37	10	116049017	116049017	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:116049017G>A	uc001lbl.1	+	11	2212	c.1891G>A	c.(1891-1893)Ggt>Agt	p.G631S	VWA2_uc001lbk.1_Missense_Mutation_p.G631S|VWA2_uc009xyf.1_Missense_Mutation_p.G327S	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	631	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TGCCCGGCCTGGTGTCCCCAA	0.627000														16			7		0	0	0.000274275	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600434	3600434	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:3600434G>A	uc002lyg.2	-	1	586	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	TBXA2R_uc021umv.1_Missense_Mutation_p.L67F	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	67					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AGGCCGCAGAGGAAGGTGAGG	0.706000														12			15		0	0	0.000308642	0	0
ATP13A4	84239	broad.mit.edu	37	3	193207550	193207550	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:193207550G>A	uc003ftd.3	-	6	815	c.707C>T	c.(706-708)tCc>tTc	p.S236F	ATP13A4_uc003fte.1_Missense_Mutation_p.S236F|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	236					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CAAAGATATGGAAATTATGGA	0.294000														92			44		0	0	0.000781405	0	0
UNC79	57578	broad.mit.edu	37	14	94084570	94084570	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:94084570C>T	uc001ybv.1	+	26	3875	c.3792C>T	c.(3790-3792)atC>atT	p.I1264I	UNC79_uc001ybs.1_Silent_p.I1242I	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1419						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						TCAGCAAGATCCTGCTGCATC	0.438000														25			31		0	0	0.000814825	0	0
C2orf63	130162	broad.mit.edu	37	2	55404787	55404787	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:55404787C>T	uc002ryi.2	-	11	1861	c.1515G>A	c.(1513-1515)atG>atA	p.M505I	C2orf63_uc002ryh.2_Missense_Mutation_p.M56I|C2orf63_uc002ryj.2_Missense_Mutation_p.M383I	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	505							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			CAACTTTTTTCATGTCTGCAG	0.358000														34			34		0	0	0.000692331	0	0
SEPN1	57190	broad.mit.edu	37	1	26135082	26135082	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:26135082C>T	uc021ojk.1	+	4	604	c.549C>T	c.(547-549)ctC>ctT	p.L183L	SEPN1_uc021ojl.1_Silent_p.L149L	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	183						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCCGCCTCGCCCTGTCCG	0.662000														70			32		0	0	0.000491102	0	0
SLIT3	6586	broad.mit.edu	37	5	168139336	168139336	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:168139336G>A	uc010jjg.3	-	23	2927	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	SLIT3_uc003mab.3_Missense_Mutation_p.S836F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	836					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGAACGCTGGAAATGTCATT	0.463000														72			62		0	0	0.000781405	0	0
MYLK3	91807	broad.mit.edu	37	16	46781899	46781899	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:46781899G>A	uc002eei.4	-	0	323	c.207C>T	c.(205-207)gcC>gcT	p.A69A	MYLK3_uc010vge.2_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	69					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTGCCCGGGAGGCCTCCAGCC	0.672000														23			15		0	0	0.000219431	0	0
TTN	7273	broad.mit.edu	37	2	179428394	179428394	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:179428394T>C	uc021vsy.1	-	274	74986	c.74761A>G	c.(74761-74763)Aca>Gca	p.T24921A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T18616A|TTN_uc021vta.1_Missense_Mutation_p.T18549A|TTN_uc021vtb.1_Missense_Mutation_p.T18424A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25848	Fibronectin type-III 81.						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)			CGTGCCCATGTTACTACCATA	0.483000														16			17		0	0	0.000958276	0	0
DEFB119	245932	broad.mit.edu	37	20	29976959	29976959	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:29976959G>A	uc002wvu.1	-	1	256	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	52					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACCGTTTACGATTTCGGCAG	0.458000														64			50		0	0	0.000781405	0	0
AK300387	0	broad.mit.edu	37	16	32190845	32190845	+	RNA	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:32190845G>A	uc010vfv.1	-	6		c.979C>T								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		AGGTACCTCAGGAAACTCTCA	0.458000														27			6		0	0	0.000157383	0	0
NR5A2	2494	broad.mit.edu	37	1	200090020	200090020	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:200090020C>T	uc001gvb.3	+	6	1521	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	NR5A2_uc001gvc.3_Missense_Mutation_p.R393C|NR5A2_uc009wzh.3_Missense_Mutation_p.R399C|NR5A2_uc010pph.2_Missense_Mutation_p.R367C	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	439					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GGCAAAACTTCGTTCTCTCCA	0.438000														83			32		0	0	0.000409698	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590623	125590623	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:125590623C>T	uc010inw.3	-	3	4847	c.3809G>A	c.(3808-3810)gGg>gAg	p.G1270E	ANKRD50_uc011cgo.2_Missense_Mutation_p.G1091E	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1270	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGATTTCCCCCCTTTACTTGC	0.398000														26			16		0	0	0.000422831	0	0
KLHL14	57565	broad.mit.edu	37	18	30257204	30257204	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:30257204G>A	uc002kxm.1	-	7	2066	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	560						cytosol|endoplasmic reticulum membrane		p.R560*(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGGCCACTTCGACCCTCCAAA	0.478000														22			20		0	0	0.000958276	0	0
KALRN	8997	broad.mit.edu	37	3	124165124	124165124	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:124165124G>A	uc003ehg.3	+	20	3550	c.3423_splice	c.e20+1	p.Q1141_splice	KALRN_uc010hrv.1_Splice_Site_p.Q1132_splice|KALRN_uc003ehf.1_Splice_Site_p.Q1141_splice|KALRN_uc011bjy.1_Splice_Site_p.Q1132_splice|KALRN_uc003ehh.1_Splice_Site_p.Q487_splice	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1141					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CGCTAAGCAGGTTGTCCAAAG	0.557000														18			15		0	0	0.000566183	0	0
SPAG5	10615	broad.mit.edu	37	17	26941126	26941126	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:26941126G>A	uc010crq.2	-	0	86	c.54C>T	c.(52-54)acC>acT	p.T18T	SPAG5_uc010waq.1_Silent_p.T18T|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Non-coding_Transcript|SPAG5_uc021ttt.1_Silent_p.T18T	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	0					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGCCACCCGGGTGTGTTCCC	0.607000														34			39		0	0	0.000781405	0	0
SF3B1	23451	broad.mit.edu	37	2	198265465	198265465	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:198265465A>G	uc002uue.3	-	17	2740	c.2692T>C	c.(2692-2694)Tat>Cat	p.Y898H	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	898					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGAAAGCATAAAGAATACCA	0.323000			Mis		myelodysplastic syndrome									49			15		0	0	0.000422831	0	0
MYBL2	4605	broad.mit.edu	37	20	42344652	42344652	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:42344652C>T	uc002xlb.1	+	13	2243	c.2028C>T	c.(2026-2028)ttC>ttT	p.F676F	MYBL2_uc010zwj.1_Silent_p.F652F	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	676						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACCAGCTTTTCATGCAGGAGA	0.617000														87			68		0	0	0.000781405	0	0
BRF2	55290	broad.mit.edu	37	8	37702229	37702229	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:37702229G>A	uc003xkk.3	-	3	1169	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	347					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CGCTTCCCCTGGGGTAAACCT	0.617000														20			20		0	0	0.00152264	0	0
FAM3D	131177	broad.mit.edu	37	3	58631246	58631246	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:58631246C>T	uc003dkq.3	-	4	550	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	85					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATGCGGTCTTCAAAGCACATA	0.428000														12			12		0	0	0.000978159	0	0
CADM3	57863	broad.mit.edu	37	1	159169596	159169596	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:159169596C>T	uc001ftl.2	+	7	1187	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CADM3_uc001ftk.2_Silent_p.I370I|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	336					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.I370I(3)|p.A335S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGGTGGGATCGTGGCTTTCA	0.557000														53			27		0	0	0.00178596	0	0
COL4A5	1287	broad.mit.edu	37	X	107849982	107849982	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:107849982G>A	uc022ccg.1	+	28	2457	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	COL4A5_uc004enz.1_Missense_Mutation_p.G752E|COL4A5_uc004eob.1_Missense_Mutation_p.G360E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	752	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGTGAACCAGGATTTGCATTA	0.478000									Alport syndrome with Diffuse Leiomyomatosis					7			46		0	0	0.000781405	0	0
TRPC7	57113	broad.mit.edu	37	5	135602072	135602072	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:135602072G>A	uc003lbn.2	-	4	1403	c.1181C>T	c.(1180-1182)tCt>tTt	p.S394F	TRPC7_uc010jef.2_Missense_Mutation_p.S330F|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.S333F|TRPC7_uc010jei.2_Missense_Mutation_p.S278F	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	394					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.S394Y(3)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATTGTAAAAGAAACTGCATG	0.408000														12			13		0	0	0.00136819	0	0
GRM8	2918	broad.mit.edu	37	7	126173552	126173552	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:126173552C>T	uc003vlr.2	-	7	2195	c.1884G>A	c.(1882-1884)ggG>ggA	p.G628G	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G628G|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	628					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGAGAAAAATCCCCGTTAGGA	0.463000										HNSCC(24;0.065)				22			12		0	0	0.00136819	0	0
OR10C1	442194	broad.mit.edu	37	6	29408518	29408518	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29408518C>T	uc011dlp.2	+	0	803	c.726C>T	c.(724-726)tcC>tcT	p.S242S	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCTGCTCCTCCCACCTGATCA	0.592000														207			94		0	0	0.000781405	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891566	18891566	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:18891566C>T	uc001rdy.3	+	0	522	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	122					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AGTTGTTCTTCTGTGCGCCTT	0.378000														2			16		0	0	0.000566183	0	0
SCN5A	6331	broad.mit.edu	37	3	38647623	38647623	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:38647623C>T	uc021wvo.1	-	8	1209	c.1157G>A	c.(1156-1158)gGg>gAg	p.G386E	SCN5A_uc021wvk.1_Missense_Mutation_p.G386E|SCN5A_uc021wvl.1_Missense_Mutation_p.G386E|SCN5A_uc021wvm.1_Missense_Mutation_p.G386E|SCN5A_uc021wvn.1_Missense_Mutation_p.G386E|SCN5A_uc021wvp.1_Missense_Mutation_p.G386E|SCN5A_uc021wvq.1_Missense_Mutation_p.G386E|SCN5A_uc021wvr.1_Missense_Mutation_p.G386E|SCN5A_uc021wvs.1_Missense_Mutation_p.G386E|SCN5A_uc021wvt.1_Missense_Mutation_p.G386E|SCN5A_uc021wvu.1_Missense_Mutation_p.G386E|SCN5A_uc021wvv.1_Missense_Mutation_p.G386E|SCN5A_uc021wvj.1_Missense_Mutation_p.G252E|SCN5A_uc021wvi.1_Missense_Mutation_p.G252E|SCN5A_uc021wvw.1_5'UTR	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	386					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTAGATCTTCCCTGCGGACCT	0.562000														29			16		0	0	0.000422831	0	0
C8A	731	broad.mit.edu	37	1	57378088	57378088	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:57378088C>T	uc001cyo.2	+	9	1525	c.1393C>T	c.(1393-1395)Cac>Tac	p.H465Y		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	465	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCAGCCTATCCACGAGGTGCT	0.617000														24			12		0	0	0.000151284	0	0
AMY2A	279	broad.mit.edu	37	1	104160630	104160630	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:104160630G>A	uc001dut.3	+	1	287	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	AMY2A_uc010ouq.1_Missense_Mutation_p.E75K	NM_000699	NP_000690	P04746	AMYP_HUMAN	Homo sapiens amylase, alpha 2A (pancreatic) (AMY2A), mRNA.	75					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	ACCTTGGTGGGAAAGATACCA	0.358000														60			48		0	0	0.000781405	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18765453	18765453	+	Silent	SNP	C	T	T	rs151116969		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:18765453C>T	uc010exr.3	-	4	910	c.798G>A	c.(796-798)agG>agA	p.R266R	NT5C1B-RDH14_uc002rcy.3_Silent_p.R324R|NT5C1B-RDH14_uc010yju.2_Silent_p.R264R|NT5C1B-RDH14_uc002rcz.3_Silent_p.R324R|NT5C1B-RDH14_uc010yjw.2_Silent_p.R307R|NT5C1B-RDH14_uc010yjv.2_Silent_p.R341R|NT5C1B-RDH14_uc010exs.3_Silent_p.R326R|NT5C1B-RDH14_uc002rda.3_Silent_p.R264R|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Silent_p.R116R	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	324					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	p.R324R(1)									CGTAGATTTTCCTGCCGTCCA	0.562000														69			54		0	0	0.000781405	0	0
CEP350	9857	broad.mit.edu	37	1	180003091	180003092	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:180003091_180003092TC>GT	uc001gnt.3	+	15	4203_4204	c.3820_3821TC>GT	c.(3820-3822)tct>GTt	p.S1274V	CEP350_uc009wxl.2_Missense_Mutation_p.S1273V|CEP350_uc001gnu.3_Missense_Mutation_p.S1107V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1274	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCAGGAACTTCTTCAGAAAGA	0.450000														97			31		0	0	6.4e-05	0	0
LRPPRC	10128	broad.mit.edu	37	2	44153093	44153094	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:44153093_44153094CC>AA	uc002rtr.2	-	25	2801_2802	c.2743_2744GG>TT	c.(2743-2745)ggg>TTg	p.G915L	LRPPRC_uc010yob.1_Missense_Mutation_p.G815L	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	915					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGCTCTAATCCCTGGAGTCTGT	0.366000														260			9		0	0	6.4e-05	0	0
ADCY6	112	broad.mit.edu	37	12	49165664	49165664	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:49165664G>A	uc001rsh.4	-	17	3540	c.2880C>T	c.(2878-2880)ttC>ttT	p.F960F	ADCY6_uc001rsi.4_Silent_p.F907F|ADCY6_uc001rsj.4_Silent_p.F960F|ADCY6_uc010slw.1_Silent_p.F191F	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	960					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCCGGGCCAGGAAGTGGGCCG	0.557000														6			42		0	0	0.000589545	0	0
KAT6A	7994	broad.mit.edu	37	8	41792309	41792309	+	Silent	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:41792309G>T	uc010lxb.3	-	17	3973	c.3429C>A	c.(3427-3429)tcC>tcA	p.S1143S	KAT6A_uc010lxc.3_Silent_p.S1143S|KAT6A_uc003xon.4_Silent_p.S1143S	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1143					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCAAAGGTGTGGATGTATCTG	0.418000														367			9		0.00136819	0.00798609	0.00136819	1	0
SSTR1	6751	broad.mit.edu	37	14	38679115	38679115	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:38679115C>T	uc021rsi.1	+	0	521	c.521C>T	c.(520-522)gCc>gTc	p.A174V	SSTR1_uc001wul.1_Missense_Mutation_p.A174V	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	174					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.V173M(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	CCCACCGTGGCCAAGGTAGTA	0.642000														21			20		0	0	0.00152264	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401533	11401533	+	Nonsense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:11401533T>A	uc003gmq.3	-	1	420	c.97A>T	c.(97-99)Aaa>Taa	p.K33*	HS3ST1_uc021xmg.1_Nonsense_Mutation_p.K33*	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	33						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTCCCCGCTTTCCGCAGAAGC	0.706000														8			6		0	0	8.12818e-05	0	0
PLCB4	5332	broad.mit.edu	37	20	9404511	9404511	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:9404511C>T	uc021wam.1	+	23	2415	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PLCB4_uc010gbw.1_Silent_p.S800S|PLCB4_uc010gbx.3_Silent_p.S812S|PLCB4_uc021wal.1_Silent_p.S800S|PLCB4_uc002wnh.3_Silent_p.S647S	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	800					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GACACATTTCCCTTCGAAATG	0.413000														7			11		0	0	0.000673444	0	0
CDCP2	200008	broad.mit.edu	37	1	54610383	54610383	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:54610383C>T	uc001cwv.1	-	1	1031	c.183G>A	c.(181-183)gtG>gtA	p.V61V		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	61	CUB 1.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCTCGGCCACCACGATCAGCC	0.557000														21			9		0	0	0.000673444	0	0
COL13A1	1305	broad.mit.edu	37	10	71705454	71705454	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:71705454G>A	uc001jql.3	+	35	2499	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	COL13A1_uc021prz.1_Missense_Mutation_p.G606R|COL13A1_uc021psa.1_Missense_Mutation_p.G583R|COL13A1_uc021psb.1_Missense_Mutation_p.G577R|COL13A1_uc001jqk.2_Missense_Mutation_p.G633R|COL13A1_uc021psc.1_Missense_Mutation_p.G624R|COL13A1_uc021psd.1_Missense_Mutation_p.G606R|COL13A1_uc010qjf.2_Missense_Mutation_p.G583R|COL13A1_uc021pse.1_Missense_Mutation_p.G577R|COL13A1_uc021psf.1_Missense_Mutation_p.G655R|COL13A1_uc021psg.1_Missense_Mutation_p.G633R|COL13A1_uc021psh.1_Missense_Mutation_p.G624R	NM_001130103	NP_001123575	Q5TAT6	CODA1_HUMAN	Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA.	655	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	TGGGATGACAGGACCAACGGG	0.557000														9			8		0	0	0.000274275	0	0
DQX1	165545	broad.mit.edu	37	2	74746699	74746699	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:74746699G>A	uc010yrw.2	-	9	1955	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	DQX1_uc002smc.3_Missense_Mutation_p.S158L	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	597						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AAAGTATCCTGACACCAGTGC	0.473000														72			49		0	0	0.000781405	0	0
DDX52	11056	broad.mit.edu	37	17	36002295	36002295	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:36002295G>A	uc002hoi.2	-	1	174	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	DDX52_uc002hoh.2_5'UTR|DDX52_uc002hoj.1_5'UTR	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	44						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCCAGTCCCTGAAGCACCTCC	0.393000														35			14		0	0	0.000151284	0	0
NDST3	9348	broad.mit.edu	37	4	119059315	119059315	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:119059315T>A	uc003ibx.3	+	4	1734	c.1331T>A	c.(1330-1332)aTt>aAt	p.I444N	NDST3_uc011cgf.1_Missense_Mutation_p.I363N	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	444	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						GTCTGGAATATTAAAATCACC	0.493000														15			23		0	0	0.000295444	0	0
DHDH	27294	broad.mit.edu	37	19	49442803	49442803	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:49442803G>A	uc002ple.1	+	3	504	c.464G>A	c.(463-465)gGg>gAg	p.G155E		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	Homo sapiens dihydrodiol dehydrogenase (dimeric) (DHDH), mRNA.	155					carbohydrate metabolic process		D-xylose 1-dehydrogenase (NADP+) activity|NAD(P)+ transhydrogenase activity|binding|electron carrier activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			central_nervous_system(1)|large_intestine(3)|lung(3)|ovary(1)|soft_tissue(1)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		GCAGAATTTGGGAAGAATCTC	0.627000														32			29		0	0	0.00106085	0	0
CSMD1	64478	broad.mit.edu	37	8	2800094	2800094	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:2800094G>A	uc022aqr.1	-	68	10825	c.10435C>T	c.(10435-10437)Cat>Tat	p.H3479Y	CSMD1_uc011kwj.2_Missense_Mutation_p.H2794Y|CSMD1_uc010lrg.3_Missense_Mutation_p.H1371Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3480			S -> N (in dbSNP:rs11984691).			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)		CCGTGGTAATGACTGGAAGAG	0.383000														8			7		0	0	8.12818e-05	0	0
MIA2	117153	broad.mit.edu	37	14	39722131	39722131	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:39722131G>A	uc001wux.3	+	4	1941	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GGTTTCAACTGATAACTCTTT	0.358000														13			8		0	0	0.000157383	0	0
SLC27A4	10999	broad.mit.edu	37	9	131105465	131105465	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:131105465G>A	uc004but.3	+	1	339	c.54G>A	c.(52-54)ctG>ctA	p.L18L	SLC27A4_uc004buu.3_Missense_Mutation_p.E46K	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	18					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	p.V17L(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						AGCTGGTGCTGAAACTGCCCT	0.602000														6			14		0	0	0.000219431	0	0
MAP3K15	389840	broad.mit.edu	37	X	19392708	19392708	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:19392708G>A	uc022btq.1	-	19	2660	c.2660C>T	c.(2659-2661)tCc>tTc	p.S887F	MAP3K15_uc004czj.2_Missense_Mutation_p.S322F|MAP3K15_uc004czk.2_Missense_Mutation_p.S362F|MAP3K15_uc004czi.2_5'Flank	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	887	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTCGAAACAGGATAAAATGAA	0.512000														7			27		0	0	0.000878237	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139815696	139815696	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:139815696C>T	uc003lfs.2	+	1	468	c.314C>T	c.(313-315)tCa>tTa	p.S105L	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.S105L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	105						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTTGAATCATTTATTTTG	0.318000														15			6		0	0	8.12818e-05	0	0
SLC17A1	6568	broad.mit.edu	37	6	25819768	25819768	+	Missense_Mutation	SNP	C	T	T	rs146175657	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:25819768C>T	uc003nfh.4	-	4	616	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.R167Q|SLC17A1_uc010jqc.1_Missense_Mutation_p.R165Q	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	167					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R167L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGTCGGCCTCGTTCCAGGGG	0.393000														95			26		0	0	0.00106085	0	0
UBXN8	7993	broad.mit.edu	37	8	30623851	30623851	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:30623851G>A	uc003xii.3	+	8	768	c.751G>A	c.(751-753)Gac>Aac	p.D251N	UBXN8_uc010lvi.3_3'UTR|UBXN8_uc011lbb.2_Non-coding_Transcript|UBXN8_uc003xij.3_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	Homo sapiens UBX domain protein 8 (UBXN8), mRNA.	252	UBX.				single fertilization					central_nervous_system(1)|lung(2)	3						GTCGCTGGAGGACATAGGAAT	0.507000														17			13		0	0	0.000151284	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603243	64603243	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64603243G>A	uc001obs.4	-	13	1749	c.1749C>T	c.(1747-1749)tcC>tcT	p.S583S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	583					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCTTGGCCTGGGACGACTCCT	0.662000														21			11		0	0	0.000978159	0	0
ALOX15B	247	broad.mit.edu	37	17	7950951	7950951	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7950951C>T	uc002gju.3	+	11	1765	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	ALOX15B_uc002gjv.3_Missense_Mutation_p.S521F|ALOX15B_uc002gjw.3_Missense_Mutation_p.S476F|ALOX15B_uc010vun.2_Missense_Mutation_p.S538F|ALOX15B_uc010cnp.3_Missense_Mutation_p.S356F	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	550	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.S550S(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCACCTGCTCCGCCAAGCAT	0.627000														13			5		0	0	0.00116845	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550953	143550953	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:143550953T>A	uc003evn.3	-	1	495	c.286A>T	c.(286-288)Aat>Tat	p.N96Y	SLC9A9_uc011bnk.2_Intron	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	96					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCAGTGATATTAACCAGCAGA	0.348000														21			20		0	0	0.000229342	0	0
LDHD	197257	broad.mit.edu	37	16	75148831	75148832	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:75148831_75148832TC>AT	uc002fdm.3	-	3	414_415	c.362_363GA>AT	c.(361-363)cga>cAT	p.R121H	LDHD_uc002fdn.3_Missense_Mutation_p.R121H	NM_153486	NP_705690	Q86WU2	LDHD_HUMAN	Homo sapiens lactate dehydrogenase D (LDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	121	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						GCTCCAGGATTCGGTCCATATG	0.634000														37			19		0	0	6.4e-05	0	0
SH2B1	25970	broad.mit.edu	37	16	28877985	28877985	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:28877985C>T	uc002dri.3	+	3	1009	c.570C>T	c.(568-570)ggC>ggT	p.G190G	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Silent_p.G190G|SH2B1_uc002drk.3_Silent_p.G190G|SH2B1_uc002drl.3_Silent_p.G190G|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Silent_p.G190G|SH2B1_uc002drm.3_Silent_p.G190G	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	190	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				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						CCTCGTCAGGCCCCCCAGTCT	0.652000														33			29		0	0	0.000339439	0	0
DAZAP1	26528	broad.mit.edu	37	19	1434888	1434888	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:1434888G>A	uc002lsn.3	+	11	1390	c.1201G>A	c.(1201-1203)Ggg>Agg	p.G401R	DAZAP1_uc002lsm.3_3'UTR	NM_018959	NP_061832	Q96EP5	DAZP1_HUMAN	Homo sapiens DAZ associated protein 1 (DAZAP1), transcript variant 2, mRNA.	401					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGTGCAAGGGTTCCACCC	0.677000														4			5		0	0	0.000602214	0	0
GDF9	2661	broad.mit.edu	37	5	132197738	132197738	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:132197738C>T	uc003kxz.1	-	1	1160	c.908G>A	c.(907-909)gGa>gAa	p.G303E	GDF9_uc011cxj.1_Missense_Mutation_p.G215E	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	303					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGCCTCTTCTCCCACAGGATA	0.537000														32			18		0	0	0.000566183	0	0
PHLDB2	90102	broad.mit.edu	37	3	111693387	111693387	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:111693387G>T	uc010hqa.3	+	17	4150	c.3739G>T	c.(3739-3741)Ggt>Tgt	p.G1247C	PHLDB2_uc003dyc.3_Missense_Mutation_p.G1231C|PHLDB2_uc003dyd.3_Missense_Mutation_p.G1204C|PHLDB2_uc003dyg.3_Missense_Mutation_p.G1247C|PHLDB2_uc003dyh.3_Missense_Mutation_p.G1204C|PHLDB2_uc003dyi.3_Missense_Mutation_p.G738C|PHLDB2_uc003dyj.3_Missense_Mutation_p.G302C	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1247						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGGGGCAGAAGGTTACACTCA	0.463000														63			31		2.87052e-16	1.71656e-15	0.00111076	1	0
COBLL1	22837	broad.mit.edu	37	2	165578631	165578631	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:165578631G>A	uc002ucp.3	-	5	1172	c.950C>T	c.(949-951)cCt>cTt	p.P317L	COBLL1_uc002ucq.3_Missense_Mutation_p.P317L|COBLL1_uc010zcw.2_Missense_Mutation_p.P383L|COBLL1_uc010zcx.2_Missense_Mutation_p.P363L|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.P86L	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	355										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						ACAAGAAGCAGGCCTCTCCTG	0.502000														16			9		0	0	0.000442599	0	0
LAMP5	24141	broad.mit.edu	37	20	9496978	9496978	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:9496978G>A	uc002wni.2	+	3	940	c.445G>A	c.(445-447)Gag>Aag	p.E149K	LAMP5_uc010zrc.2_Missense_Mutation_p.E105K	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	149						integral to membrane											CGACTCCTCGGAGAAAACCCA	0.577000														43			29		0	0	0.00127121	0	0
SPHKAP	80309	broad.mit.edu	37	2	228860340	228860340	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:228860340G>A	uc002vpq.2	-	7	4566	c.4519C>T	c.(4519-4521)Ccc>Tcc	p.P1507S	SPHKAP_uc002vpp.2_Missense_Mutation_p.P1507S|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1507						cytoplasm	protein binding	p.A1506V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGGGTTGGGGGCCTCATCG	0.552000														22			10		0	0	0.000442599	0	0
NLRP3	114548	broad.mit.edu	37	1	247588449	247588449	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247588449C>T	uc001icr.3	+	4	1842	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	NLRP3_uc001ics.3_Silent_p.F568F|NLRP3_uc001icu.3_Silent_p.F568F|NLRP3_uc001icw.3_Silent_p.F568F|NLRP3_uc001icv.3_Silent_p.F568F|NLRP3_uc010pyw.2_Silent_p.F566F|NLRP3_uc001ict.1_Silent_p.F566F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	568					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGGCAAATTCGAAAAGGGGT	0.463000														55			30		0	0	0.00178596	0	0
MUC16	94025	broad.mit.edu	37	19	9088960	9088960	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9088960T>C	uc002mkp.3	-	0	3059	c.2855A>G	c.(2854-2856)aAt>aGt	p.N952S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	952	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGTGTCTCTATTGGTCTGTGA	0.478000														57			35		0	0	0.000953801	0	0
SPNS3	201305	broad.mit.edu	37	17	4391183	4391183	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:4391183G>A	uc002fxt.3	+	11	1577	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	SPNS3_uc002fxu.3_Silent_p.E384E|AX748345_uc002fxw.1_5'Flank	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	511					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CTACAGAGGAGCCCTGAGGTC	0.627000														22			16		0	0	0.00074312	0	0
GHR	2690	broad.mit.edu	37	5	42718865	42718865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:42718865G>A	uc021xxv.1	+	9	1414	c.1277G>A	c.(1276-1278)gGg>gAg	p.G426E	GHR_uc003jmt.3_Missense_Mutation_p.G419E|GHR_uc003jmu.3_Missense_Mutation_p.G419E|GHR_uc003jmv.2_Missense_Mutation_p.G419E|GHR_uc021xxw.1_Missense_Mutation_p.G419E|GHR_uc021xxx.1_Missense_Mutation_p.G419E|GHR_uc021xxy.1_Missense_Mutation_p.G419E|GHR_uc021xxz.1_Missense_Mutation_p.G419E|GHR_uc021xya.1_Missense_Mutation_p.G419E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.G232E|GHR_uc021xyd.1_Missense_Mutation_p.G397E	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	419					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AGGTTAAAAGGGGAAGCAGAT	0.468000														25			28		0	0	0.000878237	0	0
CELSR2	1952	broad.mit.edu	37	1	109813642	109813643	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:109813642_109813643CG>AT	uc001dxa.4	+	24	7638_7639	c.7577_7578CG>AT	c.(7576-7578)ccg>cAT	p.P2526H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2526					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTTGCTGGCCCGGTGGCCTTTG	0.644000														211			7		0	0	6.4e-05	0	0
PRKDC	5591	broad.mit.edu	37	8	48815190	48815190	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:48815190G>A	uc003xqi.3	-	26	3265	c.3208C>T	c.(3208-3210)Ccc>Tcc	p.P1070S	PRKDC_uc003xqj.3_Missense_Mutation_p.P1070S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1070					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGCATTGGGGTGAAGCGCA	0.428000								Non-homologous end-joining						19			14		0	0	0.000422831	0	0
RELL2	285613	broad.mit.edu	37	5	141019704	141019704	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:141019704G>T	uc003lli.3	+	5	1569	c.721G>T	c.(721-723)Gga>Tga	p.G241*	RELL2_uc003llh.3_Nonsense_Mutation_p.G241*|FCHSD1_uc010jgg.3_3'UTR|FCHSD1_uc003llj.3_Non-coding_Transcript|FCHSD1_uc003llk.3_3'UTR	NM_001130029	NP_776189	Q8NC24	RELL2_HUMAN	Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA.	241						integral to membrane|plasma membrane		p.G241*(2)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAATGGAGGACTCAGGGA	0.667000														16			11		3.07112e-06	1.80832e-05	0.000978159	1	0
CERS1	10715	broad.mit.edu	37	19	18994943	18994943	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:18994943G>A	uc002nki.1	-	2	615	c.543C>T	c.(541-543)ctC>ctT	p.L181L	CERS1_uc002nkj.3_Silent_p.L181L|CERS1_uc010ebx.3_Silent_p.L83L	NM_021267	NP_067090	P27544	CERS1_HUMAN	Homo sapiens ceramide synthase 1 (CERS1), transcript variant 1, mRNA.	181	TLC.				ceramide biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|microsome	sphingosine N-acyltransferase activity			endometrium(3)|lung(2)	5						CCACGTGGTGGAGCAGCATGA	0.612000														14			7		0	0	0.000157383	0	0
SP7	121340	broad.mit.edu	37	12	53722750	53722750	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:53722750C>T	uc001sct.3	-	1	583	c.476G>A	c.(475-477)tGg>tAg	p.W159*	SP7_uc001scv.3_Nonsense_Mutation_p.W159*|SP7_uc001scu.3_Nonsense_Mutation_p.W141*	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTGCATATCCCACCATGGAGT	0.602000														5			20		0	0	0.000958276	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38590622	38590622	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38590622C>T	uc002ohk.3	+	4	2195	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	562					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCGGGGCTCCATCCTGGAAG	0.572000														29			22		0	0	0.000586117	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42107932	42107932	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:42107932C>T	uc001zok.4	+	12	1732	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	MAPKBP1_uc010bci.3_Silent_p.I476I|MAPKBP1_uc010udb.2_Silent_p.I315I|MAPKBP1_uc001zoj.4_Silent_p.I476I|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	482										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCGTGGGCATCCGCTCGGTGT	0.587000														16			12		0	0	0.000219431	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180678	142180679	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:142180678_142180679CC>AA	uc011krz.2	-	1	229_230	c.180_181GG>TT	c.(178-183)atgggg>atTTgg	p.60_61MG>IW	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Missense_Mutation_p.60_61MG>IW|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGCCTCAGCCCCATGCCTGGGT	0.500000														345			12		0	0	6.4e-05	0	0
NEB	4703	broad.mit.edu	37	2	152470873	152470873	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:152470873T>C	uc021vrb.1	-	71	10818	c.10789A>G	c.(10789-10791)Aag>Gag	p.K3597E	NEB_uc002txu.3_Missense_Mutation_p.K3840E|NEB_uc021vrc.1_Missense_Mutation_p.K3840E|NEB_uc010fnx.3_Missense_Mutation_p.K3585E|NEB_uc021vrd.1_Missense_Mutation_p.K3597E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3597					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AGGGGATGCTTGTAGTCTATG	0.522000														27			25		0	0	0.00047179	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125282009	125282009	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:125282009G>A	uc010flu.3	+	8	1821	c.1457G>A	c.(1456-1458)gGa>gAa	p.G486E	CNTNAP5_uc002tno.3_Missense_Mutation_p.G485E	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	485	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ATTTATTCTGGAAATAGCTAC	0.453000														4			4		0	0	0.00024832	0	0
ITGB4	3691	broad.mit.edu	37	17	73746842	73746842	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73746842C>T	uc002jpg.3	+	28	3743	c.3556C>T	c.(3556-3558)Ctg>Ttg	p.L1186L	ITGB4_uc002jph.3_Silent_p.L1186L|ITGB4_uc002jpi.4_Silent_p.L1186L|ITGB4_uc002jpj.3_Silent_p.L1186L	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1186	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACCAACCTGTACCCGTA	0.617000														57			26		0	0	0.001512	0	0
NLRP13	126204	broad.mit.edu	37	19	56423233	56423233	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:56423233G>A	uc010ygg.2	-	4	1975	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	650							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TCTTCTTTGTGAAGTCTTCCT	0.423000														54			32		0	0	0.000409698	0	0
FBXW7	55294	broad.mit.edu	37	4	153268087	153268087	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:153268087A>G	uc003ims.3	-	3	883	c.721T>C	c.(721-723)Ttt>Ctt	p.F241L	FBXW7_uc011cii.2_Missense_Mutation_p.F241L|FBXW7_uc003imt.3_Missense_Mutation_p.F241L|FBXW7_uc011cih.2_Missense_Mutation_p.F65L|FBXW7_uc003imq.3_Missense_Mutation_p.F161L|FBXW7_uc003imr.3_Missense_Mutation_p.F123L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	241					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCACCTGAAACATTTTTAGC	0.428000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									29			15		0	0	0.000422831	0	0
OR8H3	390152	broad.mit.edu	37	11	55890756	55890756	+	Missense_Mutation	SNP	G	T	T	rs146433594		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55890756G>T	uc001nii.1	+	0	908	c.908G>T	c.(907-909)aGa>aTa	p.R303I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCTCTCATTAGAGTCATGCAG	0.358000														28			11		9.04627e-18	5.42171e-17	0.000151284	1	0
WBP2NL	164684	broad.mit.edu	37	22	42415416	42415416	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:42415416C>T	uc003bbt.3	+	1	258	c.164C>T	c.(163-165)tCa>tTa	p.S55L	WBP2NL_uc011apk.2_Intron|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_5'Flank	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	55	GRAM.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTTCTCACTTCATACCGGGTA	0.383000														34			33		0	0	0.00058488	0	0
GRID1	2894	broad.mit.edu	37	10	87484319	87484319	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:87484319C>T	uc001kdl.1	-	10	1749	c.1648G>A	c.(1648-1650)Gag>Aag	p.E550K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.E121K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	550						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTGATTTTCTCCTCGGGCTTC	0.502000										Multiple Myeloma(13;0.14)				26			19		0	0	0.00152264	0	0
ZNF646	9726	broad.mit.edu	37	16	31089890	31089890	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:31089890C>T	uc002eap.3	+	1	2534	c.2245C>T	c.(2245-2247)Cag>Tag	p.Q749*	ZNF646_uc021tgu.1_Nonsense_Mutation_p.Q749*	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GACCCATTTCCAGGGTGATAA	0.537000														97			60		0	0	0.000781405	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088864	65088864	+	Silent	SNP	G	A	A	rs140875363	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:65088864G>A	uc021qli.1	+	0	495	c.495G>A	c.(493-495)ccG>ccA	p.P165P	CDC42EP2_uc001odl.3_Silent_p.P165P	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	165					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						GACTGACCCCGGAGTCAGGGG	0.637000														15			20		0	0	0.00152264	0	0
ERBB4	2066	broad.mit.edu	37	2	212652880	212652880	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:212652880G>A	uc002veg.1	-	3	524	c.426C>T	c.(424-426)atC>atT	p.I142I	ERBB4_uc002veh.1_Silent_p.I142I|ERBB4_uc010zji.1_Silent_p.I142I|ERBB4_uc010zjj.1_Silent_p.I142I|ERBB4_uc010fut.1_Silent_p.I142I	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	142					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CACCATTTAGGATTTCTGTAT	0.333000										TSP Lung(8;0.080)				12			9		0	0	0.000442599	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791406	50791406	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:50791406C>T	uc003pag.3	+	1	534	c.368C>T	c.(367-369)cCc>cTc	p.P123L		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	123	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TCTCTCCTGCCCCAGCCTCGG	0.697000														13			4		0	0	0.00024832	0	0
KIAA1704	55425	broad.mit.edu	37	13	45594490	45594491	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:45594490_45594491CC>TT	uc001uzq.3	+	6	834_835	c.731_732CC>TT	c.(730-732)tcc>tTT	p.S244F	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.S244F|KIAA1704_uc001uzs.3_Missense_Mutation_p.S121F|KIAA1704_uc001uzt.3_Missense_Mutation_p.S95F	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	244										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		AGGAAGTCATCCAGTAAGAAAG	0.302000														97			63		0	0	6.4e-05	0	0
SPATA25	128497	broad.mit.edu	37	20	44515211	44515211	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:44515211C>T	uc002xqf.3	-	1	638	c.629G>A	c.(628-630)gGg>gAg	p.G210E		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.	210						integral to membrane											GGGCATCTTCCCAGAGGCTGT	0.587000														60			47		0	0	0.000781405	0	0
MAST4	375449	broad.mit.edu	37	5	66398379	66398379	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:66398379C>T	uc021xzk.1	+	8	1394	c.1086C>T	c.(1084-1086)ccC>ccT	p.P362P	MAST4_uc003jus.3_Silent_p.P173P|MAST4_uc003jut.2_Silent_p.P173P|MAST4_uc003juu.1_Silent_p.P183P|MAST4_uc011cra.1_Silent_p.P156P|MAST4_uc010ixa.2_Non-coding_Transcript|MAST4_uc003juv.2_Silent_p.P168P|MAST4_uc003juw.3_Silent_p.P168P	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	365						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GACGTTCTCCCGCCTGCTGTG	0.383000														54			33		0	0	0.00128727	0	0
C16orf62	57020	broad.mit.edu	37	16	19628025	19628025	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:19628025C>T	uc002dgn.2	+	13	1434	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	C16orf62_uc002dgo.2_Intron|C16orf62_uc002dgp.2_Silent_p.V122V|C16orf62_uc002dgm.2_Silent_p.V462V	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	373						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGGATACGGTCCAGAACCAGC	0.507000														39			15		0	0	0.000422831	0	0
OR7D2	162998	broad.mit.edu	37	19	9296799	9296799	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9296799C>T	uc002mkz.1	+	0	530	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	114					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ACACGCTACTCCTGACCGTGA	0.507000														81			52		0	0	0.000781405	0	0
FAM175B	23172	broad.mit.edu	37	10	126523138	126523138	+	Silent	SNP	G	A	A	rs115537499	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:126523138G>A	uc001lib.4	+	8	891	c.846G>A	c.(844-846)cgG>cgA	p.R282R		NM_032182	NP_115558	Q15018	F175B_HUMAN	Homo sapiens family with sequence similarity 175, member B (FAM175B), mRNA.	282						BRISC complex	polyubiquitin binding			NS(1)	1						TCAGTCCTCGGATGCCGTCCT	0.502000														27			22		0	0	0.000586117	0	0
KAT2B	8850	broad.mit.edu	37	3	20193934	20193934	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:20193934G>T	uc003cbq.3	+	17	2862	c.2416G>T	c.(2416-2418)Gag>Tag	p.E806*		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	806	Bromo.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						CAACCCCCCTGAGAGTGAATA	0.393000														19			12		4.3838e-07	2.58503e-06	0.000151284	1	0
DNAH7	56171	broad.mit.edu	37	2	196689005	196689005	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:196689005G>A	uc002utj.4	-	48	9366	c.9265C>T	c.(9265-9267)Cat>Tat	p.H3089Y		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3089	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAAGATAATGAGGATTTCTT	0.368000														38			20		0	0	0.000229342	0	0
HUNK	30811	broad.mit.edu	37	21	33371423	33371423	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:33371423C>T	uc002yph.3	+	10	2431	c.2071C>T	c.(2071-2073)Ctg>Ttg	p.L691L		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	691					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GGAGGCCAGCCTGCCCCCACT	0.607000														40			22		0	0	0.000375601	0	0
FAT2	2196	broad.mit.edu	37	5	150946169	150946169	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:150946169G>A	uc003lue.4	-	0	2337	c.2324C>T	c.(2323-2325)gCt>gTt	p.A775V	FAT2_uc010jhx.1_Missense_Mutation_p.A775V	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	775	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGGAGCAGCTACAGTGAG	0.502000														30			22		0	0	0.00152264	0	0
MLXIPL	51085	broad.mit.edu	37	7	73013866	73013866	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:73013866C>T	uc003tyn.1	-	7	1109	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Missense_Mutation_p.S354N|MLXIPL_uc003tym.1_Missense_Mutation_p.S354N|MLXIPL_uc003tyl.1_Missense_Mutation_p.S354N|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.S261N|MLXIPL_uc003tyq.1_Missense_Mutation_p.S96N	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	354					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGCAGACGGCTGTGTCCAGA	0.637000														47			17		0	0	0.00074312	0	0
OR7G1	125962	broad.mit.edu	37	19	9225760	9225760	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9225760C>T	uc021uoi.1	-	0	680	c.680G>A	c.(679-681)aGa>aAa	p.R227K	OR7G1_uc002mks.1_Missense_Mutation_p.R227K	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						TGATGGCATTCTCAGAACAGA	0.393000														49			24		0	0	0.000295444	0	0
HEATR1	55127	broad.mit.edu	37	1	236761208	236761208	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:236761208G>A	uc001hyd.2	-	4	725	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	191					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTGCAAATGAAATCCATGA	0.353000														35			47		0	0	0.000781405	0	0
CNTN3	5067	broad.mit.edu	37	3	74347205	74347205	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:74347205G>A	uc003dpm.1	-	16	2384	c.2304C>T	c.(2302-2304)atC>atT	p.I768I		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	768	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AATATGGCACGATGCTTTCAT	0.453000														29			21		0	0	0.000229342	0	0
ACADL	33	broad.mit.edu	37	2	211069406	211069406	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:211069406C>T	uc002vdz.4	-	7	997	c.769_splice	c.e7-1	p.D257_splice		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	257					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TCTGCGGTATCCTAAGAGACC	0.343000														11			12		0	0	0.00136819	0	0
CAND2	23066	broad.mit.edu	37	3	12869058	12869058	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:12869058C>T	uc003bxk.2	+	12	3379	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F	CAND2_uc003bxj.2_Silent_p.F993F	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	1110					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTGTGAGTTCCTGAACCATG	0.567000														45			30		0	0	0.000339439	0	0
CDH16	1014	broad.mit.edu	37	16	66947150	66947151	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:66947150_66947151CC>TT	uc002eql.3	-	8	1131_1132	c.937_938GG>AA	c.(937-939)ggc>AAc	p.G313N	CDH16_uc010cdy.3_Missense_Mutation_p.G313N|CDH16_uc021tjx.1_Missense_Mutation_p.G313N|CDH16_uc002eqm.3_Missense_Mutation_p.G216N	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ATAGTCCTCGCCATGGGAATTC	0.624000														44			29		0	0	6.4e-05	0	0
OR5W2	390148	broad.mit.edu	37	11	55681498	55681498	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:55681498G>A	uc010rir.2	-	0	561	c.561C>T	c.(559-561)ctC>ctT	p.L187L		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGAGCGAGAGAGTAATAAGA	0.383000														33			23		0	0	0.00047179	0	0
ANK1	286	broad.mit.edu	37	8	41530158	41530158	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:41530158C>T	uc003xok.3	-	37	4894	c.4810G>A	c.(4810-4812)Ggg>Agg	p.G1604R	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Missense_Mutation_p.G1604R|ANK1_uc003xoj.3_Missense_Mutation_p.G1604R|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Missense_Mutation_p.G1645R	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1604	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGAGTGCCCCCTCCAACTTC	0.582000														68			45		0	0	0.000781405	0	0
SLC6A12	6539	broad.mit.edu	37	12	319086	319086	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:319086C>T	uc001qhz.3	-	3	731	c.67G>A	c.(67-69)Gag>Aag	p.E23K	SLC6A12_uc001qia.3_Missense_Mutation_p.E23K|SLC6A12_uc001qib.3_Missense_Mutation_p.E23K|SLC6A12_uc009zdh.2_Missense_Mutation_p.E23K|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	23					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCCAACTTCTCTCCCTCCTCG	0.617000														36			24		0	0	0.000878237	0	0
PDE1A	5136	broad.mit.edu	37	2	183104895	183104895	+	Missense_Mutation	SNP	C	T	T	rs145482728		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:183104895C>T	uc002uos.3	-	3	424	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	PDE1A_uc010zfp.1_Missense_Mutation_p.E10K|PDE1A_uc002uoq.1_Missense_Mutation_p.E114K|PDE1A_uc010zfq.1_Missense_Mutation_p.E114K|PDE1A_uc002uor.3_Missense_Mutation_p.E98K|PDE1A_uc002uou.3_Missense_Mutation_p.E80K	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	114					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E114K(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTTGGTTTTTCCTCAGGTTTC	0.418000														57			45		0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55541024	55541024	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:55541024A>T	uc003xsd.1	+	3	4730	c.4582A>T	c.(4582-4584)Atc>Ttc	p.I1528F	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1528					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)			TTATGAAATAATCAGTAAGAG	0.328000														13			14		0	0	0.000308642	0	0
OR4N2	390429	broad.mit.edu	37	14	20295867	20295867	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:20295867C>T	uc010tkv.2	+	0	260	c.260C>T	c.(259-261)tCt>tTt	p.S87F		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GACTTCCTCTCTGCGAAGAAG	0.522000														107			32		0	0	0.00058488	0	0
PDE6B	5158	broad.mit.edu	37	4	658000	658000	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:658000G>A	uc003gap.3	+	16	2172	c.2119G>A	c.(2119-2121)Gag>Aag	p.E707K	PDE6B_uc003gao.4_Missense_Mutation_p.E707K|PDE6B_uc011buy.2_Missense_Mutation_p.E428K|PDE6B_uc011buz.2_Missense_Mutation_p.E139K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	707					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GACCCGGAAGGAGATCGTCAT	0.617000														31			33		0	0	0.000692331	0	0
ZFAT	57623	broad.mit.edu	37	8	135614806	135614806	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:135614806C>T	uc003yup.3	-	5	1342	c.1156G>A	c.(1156-1158)Gag>Aag	p.E386K	ZFAT_uc003yun.3_Missense_Mutation_p.E374K|ZFAT_uc003yuo.3_Missense_Mutation_p.E374K|ZFAT_uc010meh.3_Missense_Mutation_p.E374K|ZFAT_uc010mej.3_Missense_Mutation_p.E324K|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.E374K|ZFAT_uc003yur.3_Missense_Mutation_p.E374K	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCCAAGGCCTCTTTGACCTTC	0.562000														36			37		0	0	0.000781405	0	0
ARMC4	55130	broad.mit.edu	37	10	28224036	28224036	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:28224036G>A	uc009xky.3	-	15	2496	c.2398C>T	c.(2398-2400)Caa>Taa	p.Q800*	ARMC4_uc010qds.2_Nonsense_Mutation_p.Q325*|ARMC4_uc010qdt.2_Nonsense_Mutation_p.Q492*|ARMC4_uc001itz.3_Nonsense_Mutation_p.Q800*	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	800							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACAAGTGGTTGAATGCCACCA	0.448000														26			22		0	0	0.00047179	0	0
OR10J3	441911	broad.mit.edu	37	1	159284246	159284246	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:159284246G>A	uc010piu.2	-	0	204	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TCTCAGAGATGGATAGCATGC	0.498000														64			16		0	0	0.000566183	0	0
KRTAP9-3	83900	broad.mit.edu	37	17	39388872	39388872	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:39388872C>T	uc021txg.1	+	0	158	c.119C>T	c.(118-120)tCc>tTc	p.S40F		NM_031962	NP_114168	Q9BYQ3	KRA93_HUMAN	Homo sapiens keratin associated protein 9-3 (KRTAP9-3), mRNA.	40	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding			breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			TGCTGTGTTTCCAGCTGCTGC	0.622000														23			28		0	0	0.000491102	0	0
C16orf71	146562	broad.mit.edu	37	16	4797551	4797551	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:4797551G>C	uc002cxn.3	+	8	1950	c.1488G>C	c.(1486-1488)agG>agC	p.R496S		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	496										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CAAGAGGCAGGCCCAGAGCCC	0.632000														5			6		0	0	0.00116845	0	0
SERINC5	256987	broad.mit.edu	37	5	79446751	79446751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:79446751G>A	uc011ctj.2	-	8	1164	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L	SERINC5_uc003kgj.3_Missense_Mutation_p.S336L|SERINC5_uc003kgm.3_Missense_Mutation_p.S336L|SERINC5_uc003kgk.3_Missense_Mutation_p.S334L|SERINC5_uc003kgl.3_Non-coding_Transcript	NM_001174072	NP_001167543	Q86VE9	SERC5_HUMAN	Homo sapiens serine incorporator 5 (SERINC5), transcript variant 1, mRNA.	336					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GTCAGAACTCGATCTTGTTGT	0.463000														58			46		0	0	0.000781405	0	0
LRCH4	4034	broad.mit.edu	37	7	100174612	100174612	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:100174612T>A	uc003uvj.3	-	12	1434	c.1381A>T	c.(1381-1383)Agt>Tgt	p.S461C	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	461					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGAGGCACTGGACTTAGGC	0.632000														5			6		0	0	0.00116845	0	0
TTC3	7267	broad.mit.edu	37	21	38511016	38511016	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:38511016T>C	uc002yvz.3	+	19	1764	c.1659_splice	c.e19+2	p.E553_splice	TTC3_uc011aee.1_Splice_Site_p.E243_splice|TTC3_uc002ywa.3_Splice_Site_p.E553_splice|TTC3_uc002ywb.3_Splice_Site_p.E553_splice|TTC3_uc010gnf.3_Splice_Site_p.E318_splice|TTC3_uc002ywc.3_Splice_Site_p.E243_splice|TTC3_uc011aed.1_Splice_Site_p.E243_splice|TTC3_uc010gne.1_Splice_Site_p.E553_splice	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	553					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGCCTGAGGTAAGATTTGTA	0.333000														39			27		0	0	0.000878237	0	0
GPR98	84059	broad.mit.edu	37	5	90041002	90041002	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:90041002G>A	uc003kju.3	+	50	10785	c.10689G>A	c.(10687-10689)aaG>aaA	p.K3563K	GPR98_uc003kjt.3_Silent_p.K1269K|GPR98_uc003kjv.3_Silent_p.K1163K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3563					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTCAAGCAAGAATTTAATAG	0.388000														110			50		0	0	0.000781405	0	0
PAX8	7849	broad.mit.edu	37	2	113984806	113984806	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:113984806G>A	uc010yxt.2	-	9	1281	c.1115C>T	c.(1114-1116)cCc>cTc	p.P372L	PAX8_uc010yxu.2_Missense_Mutation_p.P346S|PAX8_uc002tjm.3_Missense_Mutation_p.P269S|PAX8_uc002tjn.3_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	372					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGGGTATCCGGGCAGCGTGGG	0.617000			T	PPARG	follicular thyroid		Thyroid dysgenesis							7			7		0	0	0.000157383	0	0
OR7G2	390882	broad.mit.edu	37	19	9213580	9213580	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:9213580G>A	uc010xkk.2	-	0	403	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCTGCAAGGAGACAATTTTCC	0.507000														28			26		0	0	0.000720815	0	0
PTPRS	5802	broad.mit.edu	37	19	5245958	5245958	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:5245958T>C	uc002mbv.3	-	9	1051	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	PTPRS_uc002mbu.1_Missense_Mutation_p.M260V|PTPRS_uc010xin.2_Missense_Mutation_p.M260V|PTPRS_uc002mbw.3_Missense_Mutation_p.M260V|PTPRS_uc002mbx.3_Missense_Mutation_p.M264V|PTPRS_uc002mby.3_Missense_Mutation_p.M260V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	273	Ig-like C2-type 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ACGTATGGCATGGGCGAGCCC	0.647000														7			5		0	0	0.00116845	0	0
ZNF345	25850	broad.mit.edu	37	19	37368585	37368586	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:37368585_37368586CC>TT	uc002oex.3	+	2	1234_1235	c.853_854CC>TT	c.(853-855)cct>TTt	p.P285F	ZNF345_uc021utn.1_Missense_Mutation_p.P285F|ZNF345_uc002oey.4_Missense_Mutation_p.P285F|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.P285F|ZNF345_uc021utp.1_Missense_Mutation_p.P285F|ZNF345_uc021utq.1_Missense_Mutation_p.P285F	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	285					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGTGAGAAACCTTATGTATGT	0.406000														41			24		0	0	6.4e-05	0	0
ZNF831	128611	broad.mit.edu	37	20	57766570	57766570	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:57766570C>T	uc002yan.3	+	0	496	c.496C>T	c.(496-498)Cac>Tac	p.H166Y		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	166						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CATCCGGTCCCACACGGGTGA	0.617000														64			39		0	0	0.000509022	0	0
MCTP2	55784	broad.mit.edu	37	15	94882563	94882563	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:94882563C>T	uc002btj.3	+	3	747	c.682C>T	c.(682-684)Ctg>Ttg	p.L228L	MCTP2_uc010urg.1_Silent_p.L228L|MCTP2_uc002bti.2_Silent_p.L228L|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.L228L|MCTP2_uc002btg.4_Silent_p.L228L|MCTP2_uc002bth.4_Silent_p.L228L	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	228	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TGGGAAGACGCTGTACAAAAG	0.358000														70			54		0	0	0.000781405	0	0
UPF1	5976	broad.mit.edu	37	19	18976861	18976861	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:18976861C>T	uc002nkg.3	+	22	3554	c.3279C>T	c.(3277-3279)taC>taT	p.Y1093Y	UPF1_uc002nkf.3_Silent_p.Y1082Y|UPF1_uc002nkh.3_Silent_p.Y337Y	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	1093	Gln/Ser-rich.				DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGGACAGTTACCTTGGTGACG	0.562000														19			10		0	0	0.000673444	0	0
ASB15	142685	broad.mit.edu	37	7	123268983	123268983	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:123268983T>G	uc003vku.1	+	9	1227	c.935T>G	c.(934-936)aTt>aGt	p.I312S	ASB15_uc003vkw.1_Missense_Mutation_p.I312S	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	312					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CTAACACCAATTCACTCAGCA	0.383000														23			18		0	0	0.000958276	0	0
CHI3L2	1117	broad.mit.edu	37	1	111784004	111784004	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:111784004C>T	uc001eam.3	+	8	1045	c.974C>T	c.(973-975)cCc>cTc	p.P325L	CHI3L2_uc001ean.3_Missense_Mutation_p.P315L|CHI3L2_uc001eao.3_Missense_Mutation_p.P246L	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	325					chitin catabolic process	extracellular space	cation binding|chitinase activity	p.V324F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		CAACAGGTTCCCTACGCAGTC	0.537000														21			10		0	0	0.000219431	0	0
DNAH7	56171	broad.mit.edu	37	2	196771428	196771428	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:196771428C>T	uc002utj.4	-	26	4391	c.4290G>A	c.(4288-4290)atG>atA	p.M1430I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1430	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACCCAGGGTTCATTGTTATAA	0.368000														23			16		0	0	0.00074312	0	0
NOMO1	23420	broad.mit.edu	37	16	14970280	14970280	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:14970280C>T	uc002dcv.3	+	20	2487	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	807						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						AAGGCCAGATCCACCCCGAGT	0.507000														66			29		0	0	0.00058488	0	0
IGSF22	283284	broad.mit.edu	37	11	18730970	18730970	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:18730970C>T	uc009yht.2	-	17	3152	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	887										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTGTCTAGCTCCACAGGCTCC	0.577000														8			36		0	0	0.00170553	0	0
RYR1	6261	broad.mit.edu	37	19	39075687	39075687	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:39075687C>T	uc002oit.3	+	101	14881	c.14751C>T	c.(14749-14751)ttC>ttT	p.F4917F	RYR1_uc002oiu.3_Silent_p.F4912F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4917					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGTGGTCTTCGACATCACCT	0.607000														15			13		0	0	0.000151284	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25314443	25314443	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:25314443C>T	uc003grl.4	+	0	48	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	4							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				TGGCGGCCTCCAGGAATGGGT	0.662000											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			75		0	0	0.000781405	0	0
GPR180	160897	broad.mit.edu	37	13	95273347	95273347	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:95273347C>T	uc001vly.3	+	5	830	c.752C>T	c.(751-753)tCc>tTc	p.S251F	GPR180_uc001vlz.3_Missense_Mutation_p.S150F|GPR180_uc010afi.3_Missense_Mutation_p.S12F	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	251						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					GACATCGCTTCCCAAATTCAG	0.358000														45			32		0	0	0.000814825	0	0
LRRC49	54839	broad.mit.edu	37	15	71211510	71211510	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:71211510G>A	uc010ukf.2	+	6	1010	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	LRRC49_uc002asu.3_Missense_Mutation_p.R220Q|LRRC49_uc002asx.3_Missense_Mutation_p.R186Q|LRRC49_uc002asw.3_Missense_Mutation_p.R230Q|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.R202Q	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	230						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTTAACTTGCGACACAATCAA	0.333000														59			37		0	0	0.000509022	0	0
ZNF16	7564	broad.mit.edu	37	8	146171581	146171581	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:146171581G>A	uc003zet.3	-	2	199	c.12C>T	c.(10-12)ctC>ctT	p.L4L	ZNF16_uc003zeu.3_Silent_p.L4L	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGCGAGTTCTGAGGCTGGGCA	0.597000														19			12		0	0	0.000151284	0	0
GPR98	84059	broad.mit.edu	37	5	90012451	90012451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:90012451C>T	uc003kju.3	+	42	9448	c.9352C>T	c.(9352-9354)Cag>Tag	p.Q3118*	GPR98_uc003kjt.3_Nonsense_Mutation_p.Q824*|GPR98_uc003kjv.3_Nonsense_Mutation_p.Q718*	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3118					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGTGACAGTTCAGTTCATTGT	0.413000														29			23		0	0	0.000295444	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602208	138602208	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:138602208A>C	uc011kql.2	-	1	2213	c.2164T>G	c.(2164-2166)Ttc>Gtc	p.F722V	KIAA1549_uc011kqj.2_Missense_Mutation_p.F722V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	722	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCAGAAGGGAAGCTTGACCAT	0.463000			O	BRAF	pilocytic astrocytoma									54			39		0	0	0.00111076	0	0
NLRC5	84166	broad.mit.edu	37	16	57062269	57062269	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57062269C>T	uc021tiu.1	+	6	2342	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	NLRC5_uc021tit.1_Missense_Mutation_p.P739S|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.P544S|NLRC5_uc021tiw.1_Missense_Mutation_p.P544S|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	739					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAAAGCTTTGCCTCTCTGTCC	0.562000														36			24		0	0	0.000720815	0	0
DCAF8	50717	broad.mit.edu	37	1	160250033	160250033	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:160250033G>A	uc010pjc.1	-	3	429	c.157C>T	c.(157-159)Cca>Tca	p.P53S	DCAF8_uc001fvs.2_Missense_Mutation_p.P200S|DCAF8_uc021pbq.1_Missense_Mutation_p.P200S|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.P110S	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						AACCATTCTGGATACTAAGAA	0.403000														139			40		0	0	0.00170553	0	0
RNF44	22838	broad.mit.edu	37	5	175958548	175958548	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:175958548G>A	uc003mek.1	-	3	906	c.381C>T	c.(379-381)atC>atT	p.I127I	RNF44_uc011dfo.1_Silent_p.I35I|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Homo sapiens ring finger protein 44 (RNF44), mRNA.	127	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCAGCCAGGGATGTGCTGGC	0.627000														9			6		0	0	0.00116845	0	0
ZNF320	162967	broad.mit.edu	37	19	53384412	53384412	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53384412G>A	uc002qag.3	-	3	1158	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.H269Y|ZNF320_uc002qai.3_Missense_Mutation_p.H323Y	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TCTCCAGTGTGAACTCTACGA	0.408000														39			21		0	0	0.00152264	0	0
PIGO	84720	broad.mit.edu	37	9	35093191	35093191	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:35093191G>T	uc003zwd.3	-	5	1351	c.955C>A	c.(955-957)Cct>Act	p.P319T	PIGO_uc003zwe.3_Missense_Mutation_p.P319T|PIGO_uc003zwf.3_Missense_Mutation_p.P319T|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	319					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTAACTTGAGGAATCACCTCT	0.522000														4			21		1.85244e-09	1.09878e-08	0.00047179	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362473	105362473	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:105362473G>A	uc010qqu.1	-	11	2314	c.2247C>T	c.(2245-2247)acC>acT	p.T749T	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Silent_p.T641T|SH3PXD2A_uc010qqt.1_Silent_p.T683T|SH3PXD2A_uc009xxn.1_Silent_p.T641T|SH3PXD2A_uc001kxj.1_Silent_p.T806T	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	834					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATTCCTTCTTGGTGGGACATG	0.647000														44			31		0	0	0.000409698	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30883181	30883181	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:30883181G>A	uc001rji.1	-	6	1847	c.1096C>T	c.(1096-1098)Cca>Tca	p.P366S	CAPRIN2_uc001rjf.1_Missense_Mutation_p.P163S|CAPRIN2_uc001rjg.1_Missense_Mutation_p.P33S|CAPRIN2_uc001rjh.1_Missense_Mutation_p.P366S|CAPRIN2_uc001rjk.4_Missense_Mutation_p.P366S|CAPRIN2_uc001rjj.1_Missense_Mutation_p.P33S|CAPRIN2_uc001rjl.4_Missense_Mutation_p.P366S|CAPRIN2_uc001rjm.1_Missense_Mutation_p.P33S|CAPRIN2_uc001rjn.1_Missense_Mutation_p.P33S	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	366					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ACCTCTTGTGGTTGTATCTCT	0.398000														5			32		0	0	0.000692331	0	0
KIAA1467	57613	broad.mit.edu	37	12	13219709	13219709	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:13219709C>T	uc001rbi.3	+	5	1011	c.988C>T	c.(988-990)Ctg>Ttg	p.L330L	KIAA1467_uc021qvn.1_Intron	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	330						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTCTACATCCTGTTTGGCTT	0.493000														5			30		0	0	0.00058488	0	0
IL28RA	163702	broad.mit.edu	37	1	24495953	24495953	+	Silent	SNP	G	A	A	rs141902174		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:24495953G>A	uc001bis.3	-	2	348	c.321C>T	c.(319-321)tcC>tcT	p.S107S	IL28RA_uc001bir.3_Silent_p.S107S|IL28RA_uc001bit.3_Silent_p.S107S|IL28RA_uc001biu.3_Silent_p.S23S|IL28RA_uc001biv.3_Silent_p.S107S	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	107	Fibronectin type-III.				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGGGGACTTGGAGCTGGGAG	0.547000														27			21		0	0	0.000229342	0	0
ZNF554	115196	broad.mit.edu	37	19	2827625	2827625	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:2827625C>T	uc002lwm.2	+	2	335	c.137C>T	c.(136-138)aCc>aTc	p.T46I	ZNF554_uc002lwl.2_5'UTR	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	46	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)		GAATTAGTAACCTTTGAGGAC	0.537000														44			27		0	0	0.000878237	0	0
JARID2	3720	broad.mit.edu	37	6	15513250	15513250	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:15513250C>T	uc003nbj.3	+	14	3484	c.3240C>T	c.(3238-3240)acC>acT	p.T1080T	JARID2_uc011div.2_Silent_p.T908T	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1080					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTCTCAGTACCATCTCAGCCC	0.572000														102			29		0	0	0.00106085	0	0
THSD4	79875	broad.mit.edu	37	15	72020924	72020924	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:72020924G>A	uc002atb.1	+	7	1473	c.1394G>A	c.(1393-1395)gGg>gAg	p.G465E	THSD4_uc002atd.1_Missense_Mutation_p.G139E|THSD4_uc010ukg.1_Missense_Mutation_p.G105E|THSD4_uc002ate.2_Missense_Mutation_p.G105E	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	465						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCATCAATGGGAACTGGGCA	0.502000														64			48		0	0	0.000781405	0	0
CUBN	8029	broad.mit.edu	37	10	16982135	16982135	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:16982135G>A	uc001ioo.3	-	36	5496	c.5444C>T	c.(5443-5445)tCc>tTc	p.S1815F		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1815	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGAGGGAAGGAGTTTCCACA	0.502000														80			53		0	0	0.000781405	0	0
C8orf82	414919	broad.mit.edu	37	8	145753065	145753065	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:145753065G>A	uc003zdp.1	-	2	470	c.312C>T	c.(310-312)ttC>ttT	p.F104F	LRRC24_uc003zdm.3_5'Flank|C8orf82_uc003zdq.1_Silent_p.F96F	NM_001001795	NP_001001795	Q6P1X6	CH082_HUMAN	Homo sapiens chromosome 8 open reading frame 82 (C8orf82), mRNA.	104										endometrium(1)|urinary_tract(1)	2						CGCAGCGCAGGAAGTTGCGCT	0.706000														2			5		0	0	0.000602214	0	0
DIDO1	11083	broad.mit.edu	37	20	61528167	61528167	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:61528167G>A	uc002ydr.2	-	6	2082	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	DIDO1_uc002yds.2_Silent_p.F590F|DIDO1_uc002ydt.2_Silent_p.F590F|DIDO1_uc002ydu.2_Silent_p.F590F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	590					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGTGCCCTTGAAACCTGAGG	0.597000														50			45		0	0	0.000781405	0	0
SEMA3G	56920	broad.mit.edu	37	3	52470059	52470059	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:52470059C>T	uc003dea.1	-	15	1909	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	637	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		AGCCCCCGCTCCGTGTGCAAG	0.647000														19			10		0	0	0.000673444	0	0
SEPT6	23157	broad.mit.edu	37	X	118786967	118786967	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:118786967G>A	uc004erv.3	-	3	643	c.378C>T	c.(376-378)ttC>ttT	p.F126F	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.F126F|SEPT6_uc004ert.3_Silent_p.F126F|SEPT6_uc004eru.3_Silent_p.F126F|SEPT6_uc004erw.3_Silent_p.F68F|SEPT6_uc011mtv.1_Silent_p.F68F|SEPT6_uc011mtw.1_Silent_p.F156F	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	126					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GGTAGGCCTCGAATTGTGCAT	0.502000			T	MLL	AML									6			36		0	0	0.000437636	0	0
SNX11	29916	broad.mit.edu	37	17	46198670	46198670	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:46198670G>A	uc002inf.1	+	7	967	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	SNX11_uc010wlg.1_Missense_Mutation_p.E197K|SNX11_uc002ing.1_Missense_Mutation_p.E205K|SNX11_uc010wlh.1_Missense_Mutation_p.E197K|SNX11_uc010wli.1_Missense_Mutation_p.E144K|SNX11_uc010wlj.1_Missense_Mutation_p.E61K|SNX11_uc002inh.1_Missense_Mutation_p.E205K	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	205					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GGACCATTTAGAAGTGTGGGC	0.507000														83			56		0	0	0.000781405	0	0
MACF1	23499	broad.mit.edu	37	1	39824417	39824417	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:39824417C>T	uc021olw.1	+	9	7312	c.7312C>T	c.(7312-7314)Caa>Taa	p.Q2438*	MACF1_uc021ols.1_Nonsense_Mutation_p.Q1936*|MACF1_uc001cdc.2_Nonsense_Mutation_p.Q1936*|MACF1_uc021olt.1_Nonsense_Mutation_p.Q1936*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q1844*|MACF1_uc001cdb.1_Nonsense_Mutation_p.Q1023*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4003					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGTATCATCAATTCCAAAA	0.507000														40			29		0	0	0.00106085	0	0
ITGA10	8515	broad.mit.edu	37	1	145532832	145532832	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:145532832T>C	uc001eoa.3	+	10	1225	c.1149_splice	c.e10+2	p.K383_splice	ITGA10_uc010oyv.2_Splice_Site_p.K252_splice|ITGA10_uc009wiw.3_Splice_Site_p.K240_splice|ITGA10_uc010oyw.2_Splice_Site_p.K328_splice	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	383					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGGCTAAAGGTTGGACAGATT	0.478000														103			41		0	0	0.000680045	0	0
LOC649330	649330	broad.mit.edu	37	1	12907728	12907728	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12907728C>T	uc010obf.2	-	1	641	c.415G>A	c.(415-417)Gct>Act	p.A139T	LOC649330_uc009vno.2_Missense_Mutation_p.A139T	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	139							nucleic acid binding|nucleotide binding										GGCACTACAGCCAGAGCAATG	0.498000														55			39		0	0	0.000953801	0	0
RGPD3	653489	broad.mit.edu	37	2	107040789	107040789	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:107040789C>T	uc010ywi.1	-	19	3691	c.3634G>A	c.(3634-3636)Gat>Aat	p.D1212N		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1212					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTGTTTGATCATTTGTCAAA	0.428000														105			84		0	0	0.000781405	0	0
DMD	1756	broad.mit.edu	37	X	32305680	32305680	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:32305680C>T	uc004dda.1	-	42	6500	c.6256G>A	c.(6256-6258)Gaa>Aaa	p.E2086K	DMD_uc004dcw.2_Missense_Mutation_p.E742K|DMD_uc004dcx.2_Missense_Mutation_p.E745K|DMD_uc004dcz.2_Missense_Mutation_p.E1963K|DMD_uc004dcy.1_Missense_Mutation_p.E2082K|DMD_uc004ddb.1_Missense_Mutation_p.E2078K|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2086					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAACTTTTTCCCATTGGAAA	0.398000														2			14		0	0	0.000308642	0	0
CMA1	1215	broad.mit.edu	37	14	24976598	24976598	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:24976598C>T	uc001wpp.1	-	1	203	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	58	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CACAAAGTTCCGTCTTATAAG	0.478000														36			35		0	0	0.000374591	0	0
ZNF417	147687	broad.mit.edu	37	19	58420218	58420218	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58420218C>T	uc002qqq.3	-	2	1627	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	ZNF417_uc010yhm.2_Silent_p.K433K|ZNF417_uc002qqr.3_Silent_p.K475K	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCACGCAGTTCTTATTACCAA	0.408000														54			45		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778104	140778104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140778104C>T	uc003lkf.2	+	0	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S137F	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	137	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAAAATTCCTTTGAGCTG	0.413000														35			27		0	0	0.000374591	0	0
KRT18P55	284085	broad.mit.edu	37	17	26604343	26604343	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:26604343G>A	uc002has.3	-	2	619	c.132C>T	c.(130-132)ctC>ctT	p.L44L						Homo sapiens keratin 18 pseudogene 55 (KRT18P55), non-coding RNA.																		GGAGAGGGTGGAGCAAGTGGT	0.547000														33			22		0	0	0.00047179	0	0
FAM71B	153745	broad.mit.edu	37	5	156592594	156592595	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:156592594_156592595CG>AT	uc003lwn.3	-	0	685_686	c.585_586CG>AT	c.(583-588)cccgaa>ccATaa	p.E196*		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	196						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)			TTGTTGTCTTCGGGTGGTGCGT	0.495000														361			8		0	0	6.4e-05	0	0
FTSJ1	24140	broad.mit.edu	37	X	48341135	48341135	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:48341135C>T	uc004djo.1	+	10	1233	c.910C>T	c.(910-912)Ccc>Tcc	p.P304S	FTSJ1_uc004djn.1_Missense_Mutation_p.P302S|FTSJ1_uc011mlw.1_Missense_Mutation_p.P167S	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	304					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGACACGTTTCCCCAGCCCCT	0.642000														2			5		0	0	8.12818e-05	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775390	234775390	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:234775390G>A	uc010znf.2	-	1	690	c.452C>T	c.(451-453)cCa>cTa	p.P151L						Homo sapiens male-specific lethal 3 homolog (Drosophila) pseudogene 1 (MSL3P1), non-coding RNA.																		CGGCCTGGATGGATTCAACAA	0.522000														7			8		0	0	0.000157383	0	0
EN1	2019	broad.mit.edu	37	2	119604387	119604387	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:119604387C>T	uc002tlm.3	-	0	1373	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	119					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGGCTGCTCCTTTTTGCAGC	0.677000														46			24		0	0	0.000720815	0	0
LTBP2	4053	broad.mit.edu	37	14	74969359	74969359	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:74969359G>A	uc001xqa.3	-	33	5554	c.5167C>T	c.(5167-5169)Cca>Tca	p.P1723S		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1723					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CACAGACCTGGATGGCTGGCC	0.582000														41			21		0	0	0.00152264	0	0
PFKM	5213	broad.mit.edu	37	12	48535532	48535532	+	Silent	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:48535532C>A	uc001rrb.2	+	17	1909	c.1635C>A	c.(1633-1635)ccC>ccA	p.P545P	PFKM_uc001rra.2_Silent_p.P159P|PFKM_uc001rrc.3_Silent_p.P474P|PFKM_uc001rrd.3_Silent_p.P159P|PFKM_uc001rre.2_Silent_p.P474P|PFKM_uc021qxj.1_Silent_p.P474P|PFKM_uc001rrg.2_Silent_p.P443P	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	474					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGACTCTACCCAAGAAGAGCT	0.473000														128			6		0.000274275	0.00160792	0.000274275	1	0
PLCL2	23228	broad.mit.edu	37	3	17109548	17109548	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:17109548C>T	uc011awc.2	+	5	3267	c.3171C>T	c.(3169-3171)acC>acT	p.T1057T	PLCL2_uc011awd.2_Silent_p.T939T	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	1065					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGAATATTACCATCTTAAAGG	0.403000														49			17		0	0	0.000958276	0	0
DEFB118	117285	broad.mit.edu	37	20	29960908	29960908	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:29960908G>C	uc002wvr.3	+	1	340	c.307G>C	c.(307-309)Gtt>Ctt	p.V103L		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	103					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GAAAGATATGGTTGAAGAGTC	0.458000														39			23		0	0	0.000586117	0	0
BTBD9	114781	broad.mit.edu	37	6	38561824	38561825	+	Missense_Mutation	DNP	GG	TT	TT	rs139584819	by1000genomes	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:38561824_38561825GG>TT	uc003ooa.4	-	3	1040_1041	c.464_465CC>AA	c.(463-465)ccc>cAA	p.P155Q	BTBD9_uc010jwv.3_Missense_Mutation_p.P96Q|BTBD9_uc003ony.4_Missense_Mutation_p.P87Q|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.P155Q	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	155	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AAGTTAACTTGGGAAGTGAGTA	0.421000														398			11		0	0	6.4e-05	0	0
ZNF773	374928	broad.mit.edu	37	19	58017786	58017786	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58017786C>T	uc002qox.3	+	3	463	c.323C>T	c.(322-324)cCc>cTc	p.P108L	ZNF773_uc002qoy.3_Missense_Mutation_p.P107L|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GTAGAAGTGCCCAGTTCAAAC	0.483000														61			38		0	0	0.000953801	0	0
VARS	7407	broad.mit.edu	37	6	31752211	31752211	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:31752211G>A	uc003nxe.3	-	11	1959	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	512					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CGAGGACCCCGAACTCCACCT	0.597000														457			181		0	0	0.000781405	0	0
CPNE2	221184	broad.mit.edu	37	16	57159865	57159865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57159865G>A	uc010cct.2	+	11	1446	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	CPNE2_uc002eks.2_Missense_Mutation_p.A341T|CPNE2_uc010ccu.2_Missense_Mutation_p.A341T|CPNE2_uc002ekt.1_Missense_Mutation_p.A99T	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	341	VWFA.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				ATATCTGTCGGCCATCTGGGC	0.532000														27			19		0	0	0.00121646	0	0
IMMT	10989	broad.mit.edu	37	2	86371633	86371633	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:86371633C>T	uc002sqz.4	-	14	2423	c.2035G>A	c.(2035-2037)Gag>Aag	p.E679K	IMMT_uc002sqy.4_Missense_Mutation_p.E420K|IMMT_uc010yte.2_Missense_Mutation_p.E632K|IMMT_uc002srb.4_Missense_Mutation_p.E668K|IMMT_uc002sra.4_Missense_Mutation_p.E678K|IMMT_uc010ytd.2_Missense_Mutation_p.E667K	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	679						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCAGAGCTCTGGGGGCGGC	0.453000														36			28		0	0	0.001512	0	0
RYR1	6261	broad.mit.edu	37	19	38948853	38948853	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:38948853G>A	uc002oit.3	+	17	2218	c.2088G>A	c.(2086-2088)ggG>ggA	p.G696G	RYR1_uc002oiu.3_Silent_p.G696G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	696	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTACCCTGGGGCCGGCGAGG	0.647000														30			15		0	0	0.000566183	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95494943	95494943	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:95494943C>T	uc010fhp.3	-	8		c.797_splice	c.e8-1					Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGCAGGAGGCCCTACAAAGCA	0.353000														50			36		0	0	0.00170553	0	0
POLR3A	11128	broad.mit.edu	37	10	79739921	79739921	+	Silent	SNP	G	A	A	rs112788477		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:79739921G>A	uc001jzn.3	-	29	4135	c.4002C>T	c.(4000-4002)ttC>ttT	p.F1334F		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1334					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCTTCTGCCCGAAGTAGGCAG	0.493000														42			29		0	0	0.00058488	0	0
MYO5C	55930	broad.mit.edu	37	15	52529717	52529717	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:52529717C>T	uc010bff.3	-	21	2992	c.2830G>A	c.(2830-2832)Gag>Aag	p.E944K	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	944						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCCTTCTCCTCGTAATTTCGC	0.522000														217			134		0	0	0.000781405	0	0
RYR3	6263	broad.mit.edu	37	15	34147008	34147009	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:34147008_34147009GG>TT	uc001zhi.3	+	97	13972_13973	c.13902_13903GG>TT	c.(13900-13905)ctgggc>ctTTgc	p.G4635C	RYR3_uc010bar.3_Missense_Mutation_p.G4630C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4635					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTCAGTCCTGGGCCACTACAA	0.441000														220			9		0	0	6.4e-05	0	0
OR2L2	26246	broad.mit.edu	37	1	248201816	248201816	+	Missense_Mutation	SNP	G	A	A	rs142994715		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248201816G>A	uc001idw.3	+	0	343	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D83N(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GAtggtttatgattttctgta	0.418000														74			127		0	0	0.000781405	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	T	T	rs145110689		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:178408731C>T	uc003mjr.3	-	9	2740	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_uc003mjq.3_Missense_Mutation_p.R257Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	854					detection of visible light|visual perception	integral to plasma membrane		p.R854*(1)		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)		GCTCCGCTTTCGCTTCTGCAC	0.612000														56			28		0	0	0.00127121	0	0
WDR19	57728	broad.mit.edu	37	4	39255580	39255580	+	Silent	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:39255580C>A	uc003gtv.3	+	25	3085	c.2931C>A	c.(2929-2931)tcC>tcA	p.S977S	WDR19_uc011byi.2_Silent_p.S817S|WDR19_uc003gtw.1_Silent_p.S574S	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	977					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGTCATGTCCAAATGCAACA	0.353000														128			7		0.000157383	0.000923996	0.000157383	1	0
OR2B11	127623	broad.mit.edu	37	1	247614625	247614625	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:247614625G>A	uc010pyx.2	-	0	660	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGCCATAGGAGAGAAGGATGA	0.577000														56			22		0	0	0.000229342	0	0
ACACA	31	broad.mit.edu	37	17	35603821	35603821	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:35603821G>A	uc002hnm.3	-	18	2461	c.2270C>T	c.(2269-2271)cCt>cTt	p.P757L	ACACA_uc002hnk.3_Missense_Mutation_p.P679L|ACACA_uc002hnl.3_Missense_Mutation_p.P699L|ACACA_uc002hnn.3_Missense_Mutation_p.P757L|ACACA_uc002hno.3_Missense_Mutation_p.P794L|ACACA_uc010cuz.3_Missense_Mutation_p.P757L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	757	Biotinyl-binding.				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	ATP binding|acetyl-CoA carboxylase activity|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)	CCCAGCAGAAGGTGAGCGCAT	0.463000														55			40		0	0	0.00128727	0	0
PSG3	5671	broad.mit.edu	37	19	43376041	43376041	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:43376041G>A	uc002ovd.1	-	2	725	c.587C>T	c.(586-588)tCc>tTc	p.S196F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.S196F|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.S196F|PSG3_uc002ovb.3_Missense_Mutation_p.S196F	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	196	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTTGGTTTCGGACAGCTTCAA	0.522000														102			82		0	0	0.000781405	0	0
SCD5	79966	broad.mit.edu	37	4	83557909	83557909	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:83557909C>T	uc003hna.2	-	3	957	c.637G>A	c.(637-639)Gga>Aga	p.G213R		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	213					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				AGACTCTCTCCCCAGATGTAC	0.532000														16			13		0	0	0.000151284	0	0
SYT16	83851	broad.mit.edu	37	14	62463105	62463105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:62463105G>A	uc001xfu.1	+	0	565	c.368G>A	c.(367-369)tGg>tAg	p.W123*	SYT16_uc010tsd.1_Nonsense_Mutation_p.W123*	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	123										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATGTCCCAGTGGCCCAATTGG	0.463000														13			9		0	0	0.000442599	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	22995438	22995438	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:22995438G>A	uc003xcz.1	-	8	1198	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	369					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAGCTTTTCGGAGCCCACCAG	0.473000														20			25		0	0	0.000586117	0	0
CCDC73	493860	broad.mit.edu	37	11	32663547	32663547	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:32663547C>T	uc001mtv.3	-	12	1065	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	CCDC73_uc001mtw.1_Missense_Mutation_p.E331K	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	341								p.H340R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGTGCTTTTTCATGCTCATTT	0.249000														35			14		0	0	0.000308642	0	0
FBN2	2201	broad.mit.edu	37	5	127624855	127624855	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:127624855C>A	uc003kuu.3	-	51	7040	c.6601G>T	c.(6601-6603)Ggc>Tgc	p.G2201C		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2201	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGTTGTAGCCCATTGGACAT	0.403000														33			23		6.32553e-13	3.77423e-12	0.000720815	1	0
ARSA	410	broad.mit.edu	37	22	51064664	51064664	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:51064664G>A	uc003bna.4	-	4	901	c.639C>T	c.(637-639)ctC>ctT	p.L213L	ARSA_uc021wsd.1_Silent_p.L299L|ARSA_uc021wse.1_Silent_p.L299L|ARSA_uc021wsf.1_Silent_p.L299L|ARSA_uc003bmz.4_Silent_p.L297L	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	297						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CACACCGCAAGAGACCGGAGC	0.652000														15			14		0	0	0.000219431	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44507259	44507259	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:44507259C>T	uc002xqd.3	+	1	2307	c.2062C>T	c.(2062-2064)Cct>Tct	p.P688S	ZSWIM3_uc010zxg.2_Missense_Mutation_p.P682S|ZSWIM1_uc010ghi.3_5'Flank	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	688							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGAGGGATTCCCTCCTGCTAC	0.527000														46			34		0	0	0.000692331	0	0
IL12RB1	3594	broad.mit.edu	37	19	18180356	18180356	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:18180356C>T	uc002nhx.1	-	11	1360	c.1309_splice	c.e11+1	p.A437_splice	IL12RB1_uc002nhw.1_Splice_Site_p.A397_splice|IL12RB1_uc010xqb.1_Splice_Site_p.A397_splice	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	397	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGCCATTACCCATTCCAGCC	0.622000														10			7		0	0	8.12818e-05	0	0
ZNF83	55769	broad.mit.edu	37	19	53117670	53117670	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53117670T>A	uc002pzu.4	-	1	1392	c.148A>T	c.(148-150)Agt>Tgt	p.S50C	ZNF83_uc002pzv.4_Missense_Mutation_p.S50C|ZNF83_uc010eps.3_Missense_Mutation_p.S50C|ZNF83_uc010ept.3_Missense_Mutation_p.S50C|ZNF83_uc010epu.3_Missense_Mutation_p.S50C|ZNF83_uc010epw.3_Missense_Mutation_p.S50C|ZNF83_uc010epv.3_Missense_Mutation_p.S50C|ZNF83_uc010epx.3_Missense_Mutation_p.S50C|ZNF83_uc010epy.3_Missense_Mutation_p.S50C|ZNF83_uc010epz.3_Missense_Mutation_p.S50C|ZNF83_uc010eqb.2_Missense_Mutation_p.S50C|ZNF83_uc021uyx.1_Missense_Mutation_p.S50C	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	50						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		ACTAAGGAACTACTGTTGACA	0.363000														40			21		0	0	0.00152264	0	0
ZNF331	55422	broad.mit.edu	37	19	54080169	54080169	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54080169C>T	uc002qbx.1	+	6	1789	c.355C>T	c.(355-357)Cct>Tct	p.P119S	ZNF331_uc002qby.1_Missense_Mutation_p.P119S|ZNF331_uc002qbz.1_Missense_Mutation_p.P119S|ZNF331_uc010eqr.1_Missense_Mutation_p.P119S|ZNF331_uc002qca.1_Missense_Mutation_p.P119S|ZNF331_uc021uzg.1_Missense_Mutation_p.P119S|ZNF331_uc021uzh.1_Missense_Mutation_p.P119S|ZNF331_uc002qcb.1_Missense_Mutation_p.P119S|ZNF331_uc002qcc.1_Missense_Mutation_p.P119S|ZNF331_uc002qcd.1_Missense_Mutation_p.P119S	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGGCACCCCTCCTAGAACACA	0.438000			T	?	follicular thyroid adenoma									53			46		0	0	0.000781405	0	0
PLA2R1	22925	broad.mit.edu	37	2	160869882	160869882	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:160869882C>T	uc002ube.2	-	9	1768	c.1556G>A	c.(1555-1557)tGg>tAg	p.W519*	PLA2R1_uc010zcp.2_Nonsense_Mutation_p.W519*|PLA2R1_uc002ubf.3_Nonsense_Mutation_p.W519*	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	519					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATGTCTCTCCCATCCCTTAAA	0.373000														28			15		0	0	0.000219431	0	0
GEMIN5	25929	broad.mit.edu	37	5	154267830	154267830	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:154267830G>A	uc003lvx.3	-	27	4550	c.4467C>T	c.(4465-4467)ctC>ctT	p.L1489L	GEMIN5_uc011ddk.1_Silent_p.L1488L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1489					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTTCTGAAGGAGCTCTTGGG	0.498000														46			38		0	0	0.00170553	0	0
NPSR1	387129	broad.mit.edu	37	7	34724190	34724190	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:34724190C>T	uc003teh.1	+	1	302	c.174C>T	c.(172-174)gtC>gtT	p.V58V	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.V58V|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.V58V|NPSR1_uc003tei.1_Silent_p.V58V|NPSR1_uc010kww.1_Silent_p.V58V|NPSR1_uc011kar.1_Silent_p.V58V	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	58						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTCTGTGGGTCCTCTTTGTTT	0.433000														59			21		0	0	0.000720815	0	0
PTPRT	11122	broad.mit.edu	37	20	40727169	40727169	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:40727169G>A	uc002xkg.3	-	26	3922	c.3738C>T	c.(3736-3738)ttC>ttT	p.F1246F	PTPRT_uc010ggj.3_Silent_p.F1265F|PTPRT_uc010ggi.3_Silent_p.F449F	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1246	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGGTGACCACGAAGGCGGCAG	0.517000														37			20		0	0	0.00152264	0	0
RECQL5	9400	broad.mit.edu	37	17	73626700	73626700	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:73626700C>T	uc010dgl.3	-	13	1927	c.1718_splice	c.e13+1	p.E573_splice	RECQL5_uc010dgk.3_Splice_Site_p.E546_splice|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	573					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGAACTCACTCATCAGCGGTA	0.622000								Other identified genes with known or suspected DNA repair function						45			14		0	0	0.000308642	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334373	37334373	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:37334373C>T	uc003aqa.4	+	13	2740	c.2523C>T	c.(2521-2523)tcC>tcT	p.S841S	CSF2RB_uc003aqc.4_Silent_p.S847S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	841					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACCTTCTTCCCCGGGACCCG	0.632000														78			64		0	0	0.000781405	0	0
HEXA	3073	broad.mit.edu	37	15	72668076	72668076	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:72668076G>A	uc002aun.4	-	0	445	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	CELF6_uc002auk.3_Non-coding_Transcript|HEXA_uc010ukn.2_Missense_Mutation_p.R80C|HEXA_uc010bix.3_Missense_Mutation_p.R80C|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|C15orf34_uc010ukp.1_5'Flank	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	80					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGGTAAGGACGGGGCCAAGAC	0.657000														68			58		0	0	0.000781405	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603468	138603468	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:138603468G>A	uc011kql.2	-	1	953	c.904C>T	c.(904-906)Ccc>Tcc	p.P302S	KIAA1549_uc011kqj.2_Missense_Mutation_p.P302S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	302						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCCAAGGAGGGCAACGGTATA	0.522000			O	BRAF	pilocytic astrocytoma									34			16		0	0	0.000308642	0	0
C15orf55	256646	broad.mit.edu	37	15	34647860	34647860	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:34647860C>T	uc010ucc.2	+	7	2033	c.1651C>T	c.(1651-1653)Ctt>Ttt	p.L551F	C15orf55_uc010ucd.2_Missense_Mutation_p.L541F|C15orf55_uc001zif.3_Missense_Mutation_p.L523F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	523						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CGCCGCTTGCCTTGGAAAGGT	0.587000			T	"""BRD3, BRD4"""	lethal midline carcinoma									52			44		0	0	0.000781405	0	0
TFPT	29844	broad.mit.edu	37	19	54611338	54611338	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54611338C>T	uc010yej.1	-	4	1043	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	213					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCACCTGCACCGGGGCCAGC	0.711000			T	TCF3	pre-B ALL									40			18		0	0	0.000295444	0	0
PTPRG	5793	broad.mit.edu	37	3	62142769	62142769	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:62142769C>T	uc003dlb.3	+	6	1430	c.711C>T	c.(709-711)gtC>gtT	p.V237V	PTPRG_uc003dlc.3_Silent_p.V237V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	237	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V237F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCCTTTCGTCCTCCGGGACC	0.517000														40			26		0	0	0.00127121	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404301	34404301	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:34404301C>T	uc002edv.1	-	0		c.462G>A								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		CCCTCGATTTCAATGTTGGGG	0.483000														41			26		0	0	0.001512	0	0
BLM	641	broad.mit.edu	37	15	91333954	91333955	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:91333954_91333955CC>AA	uc002bpr.3	+	14	2996_2997	c.2899_2900CC>AA	c.(2899-2901)cct>AAt	p.P967N	BLM_uc010uqh.2_Missense_Mutation_p.P967N|BLM_uc010uqi.2_Missense_Mutation_p.P592N|BLM_uc010bnx.3_Missense_Mutation_p.P967N	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	967	Helicase C-terminal.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TGCATCTCTCCCTAAATCTGTG	0.421000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					534			15		0	0	6.4e-05	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7527156	7527156	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:7527156C>T	uc002mgi.3	+	10	2260	c.2007C>T	c.(2005-2007)ttC>ttT	p.F669F	ARHGEF18_uc010xjm.1_Silent_p.F511F|ARHGEF18_uc002mgh.3_Silent_p.F511F|ARHGEF18_uc002mgj.1_Silent_p.F312F	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	669					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.T669K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GAGGCCTATTCCGTGGAGGGG	0.607000														25			17		0	0	0.00152264	0	0
SDHA	6389	broad.mit.edu	37	5	235406	235406	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:235406C>T	uc011clv.1	+	8	1327	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	SDHA_uc003jao.4_Silent_p.P404P|SDHA_uc011clw.2_Silent_p.P356P|SDHA_uc003jaq.4_Silent_p.P179P|SDHA_uc021xvu.1_Silent_p.P179P	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	404					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CTGTCCTCCCCACCGTGCATT	0.617000									Familial Paragangliomas					28			18		0	0	0.00121646	0	0
PGK2	5232	broad.mit.edu	37	6	49754498	49754498	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:49754498G>A	uc003ozu.3	-	0	556	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	135					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTCCAGAGGGATCTTGGCCC	0.507000														36			12		0	0	0.000151284	0	0
MOG	4340	broad.mit.edu	37	6	29627375	29627375	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29627375G>A	uc003nnf.3	+	1	597	c.368G>A	c.(367-369)gGa>gAa	p.G123E	MOG_uc003qzk.2_Missense_Mutation_p.G123E|MOG_uc010kle.2_Intron|MOG_uc010klf.2_Intron|MOG_uc003nmy.2_Missense_Mutation_p.G123E|MOG_uc003nna.3_Intron|MOG_uc011dlt.2_Missense_Mutation_p.G53E|MOG_uc011dlv.2_Intron|MOG_uc011dlu.2_Intron|MOG_uc003nne.3_Missense_Mutation_p.G123E|MOG_uc003nng.3_Missense_Mutation_p.G123E|MOG_uc003nni.3_Missense_Mutation_p.G123E|MOG_uc003nnh.3_Missense_Mutation_p.G123E|MOG_uc003nnj.3_Missense_Mutation_p.G123E|MOG_uc003nnk.3_Missense_Mutation_p.G123E	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	123	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.E122K(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCAGATGAAGGAGGTTTCACC	0.463000														32			50		0	0	0.000781405	0	0
ANKRD12	23253	broad.mit.edu	37	18	9257234	9257234	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:9257234C>T	uc002knv.3	+	8	4233	c.3969C>T	c.(3967-3969)ttC>ttT	p.F1323F	ANKRD12_uc002knw.3_Silent_p.F1300F|ANKRD12_uc002knx.3_Silent_p.F1300F|ANKRD12_uc010dkx.1_Silent_p.F1030F	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1323						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CCAAACAATTCCAAACAATAT	0.398000														57			30		0	0	0.00058488	0	0
SUPT6H	6830	broad.mit.edu	37	17	27014149	27014149	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:27014149C>T	uc010crt.3	+	22	2936	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	SUPT6H_uc002hby.3_Missense_Mutation_p.S915F|SUPT6H_uc002hbz.1_5'Flank	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	915					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGGCCGTCTCCCTGGCCCGG	0.542000														68			46		0	0	0.000781405	0	0
ANXA9	8416	broad.mit.edu	37	1	150955615	150955615	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:150955615C>T	uc001ewa.2	+	2	504	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	12					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGCACCGTCCCTCACCCAGGA	0.582000														33			45		0	0	0.000781405	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961797	100961797	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:100961797G>A	uc011lvb.2	-	12	2833	c.2653C>T	c.(2653-2655)Cac>Tac	p.H885Y	TBC1D2_uc004ayp.3_Missense_Mutation_p.H425Y|TBC1D2_uc004ayq.3_Missense_Mutation_p.H874Y|TBC1D2_uc004ayr.3_Missense_Mutation_p.H667Y	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	885						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGCTCCCGGTGGACCATGCGC	0.632000														34			68		0	0	0.000781405	0	0
ASPHD2	57168	broad.mit.edu	37	22	26830365	26830366	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:26830365_26830366GG>TT	uc003acg.2	+	1	1181_1182	c.784_785GG>TT	c.(784-786)ggg>TTg	p.G262L		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	262					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GACCTGTATTGGGAACAATGTT	0.530000														132			7		0	0	6.4e-05	0	0
HIP1	3092	broad.mit.edu	37	7	75182832	75182833	+	Silent	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:75182832_75182833GG>AA	uc003uds.2	-	21	2259_2260	c.2214_2215CC>TT	c.(2212-2217)tccctg>tcTTtg	p.738_739SL>SL	HIP1_uc011kfz.2_Silent_p.738_739SL>SL	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	738					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TCTTCCTCCAGGGAGGCCAGGT	0.525000			T	PDGFRB	CMML									36			38		0	0	6.4e-05	0	0
ATF2	1386	broad.mit.edu	37	2	175976345	175976345	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:175976345C>T	uc002ujl.3	-	9	1041	c.779G>A	c.(778-780)gGa>gAa	p.G260E	ATF2_uc002ujv.3_Missense_Mutation_p.G7E|ATF2_uc002ujm.3_Missense_Mutation_p.G202E|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.G260E|ATF2_uc010fqu.3_Missense_Mutation_p.G242E|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.G202E|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.G211E|ATF2_uc002ujw.1_Missense_Mutation_p.G202E|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	260					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			ACCTGGGATTCCTGGAACACT	0.393000														74			45		0	0	0.000781405	0	0
FAM135B	51059	broad.mit.edu	37	8	139144923	139144923	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:139144923G>A	uc003yuy.3	-	19	4305	c.4134C>T	c.(4132-4134)atC>atT	p.I1378I	FAM135B_uc003yux.3_Silent_p.I1279I|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1378								p.L1377L(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGCTCGGCCGATCAGGGTGT	0.537000										HNSCC(54;0.14)				115			81		0	0	0.000781405	0	0
ERBB2	2064	broad.mit.edu	37	17	37883082	37883082	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:37883082C>T	uc002hso.3	+	24	3223	c.2985C>T	c.(2983-2985)ggC>ggT	p.G995G	ERBB2_uc010cwa.3_Silent_p.G980G|ERBB2_uc002hsm.3_Silent_p.G965G|ERBB2_uc002hsp.3_Silent_p.G798G|ERBB2_uc010cwb.3_Silent_p.G995G|ERBB2_uc010wek.2_Silent_p.G719G	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	995					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGACTTGGGCCCAGCCAGTC	0.622000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				30			34		0	0	0.000692331	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103574820	103574820	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:103574820C>T	uc001ymk.3	+	9	2018	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	648										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CCAGCGGCACCTGGAGACTCT	0.592000														65			36		0	0	0.000509022	0	0
ITGA3	3675	broad.mit.edu	37	17	48149481	48149481	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:48149481C>T	uc010dbm.3	+	6	1555	c.1091C>T	c.(1090-1092)cCc>cTc	p.P364L	ITGA3_uc010dbl.3_Missense_Mutation_p.P364L	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	364					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity	p.P364R(2)		endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTTCATGGCCCCAGTGGCTCT	0.557000														44			42		0	0	0.000781405	0	0
INTS3	65123	broad.mit.edu	37	1	153723710	153723710	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:153723710G>A	uc009wom.3	+	7	945	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K	INTS3_uc001fct.3_Missense_Mutation_p.E242K|INTS3_uc001fcu.3_5'UTR|INTS3_uc001fcv.3_Missense_Mutation_p.E36K|INTS3_uc010peb.2_Missense_Mutation_p.E36K|INTS3_uc001fcw.3_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	243					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTGCTTCGGGAACGGGTGAG	0.517000														33			32		0	0	0.00128727	0	0
C5orf30	90355	broad.mit.edu	37	5	102612106	102612106	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:102612106G>A	uc003kog.1	+	2	755	c.486G>A	c.(484-486)agG>agA	p.R162R	C5orf30_uc003koh.1_Silent_p.R162R|C5orf30_uc021yca.1_Silent_p.R162R	NM_033211	NP_149988	Q96GV9	CE030_HUMAN	Homo sapiens chromosome 5 open reading frame 30 (C5orf30), mRNA.	162										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AAGGTAAGAGGGCTCACTCCA	0.468000														21			20		0	0	0.000295444	0	0
RNF17	56163	broad.mit.edu	37	13	25418818	25418818	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:25418818G>A	uc001upr.3	+	20	2901	c.2860G>A	c.(2860-2862)Gaa>Aaa	p.E954K	RNF17_uc010tdd.1_Missense_Mutation_p.E813K|RNF17_uc010tde.2_Missense_Mutation_p.E954K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E893K|RNF17_uc010aac.3_Missense_Mutation_p.E152K|RNF17_uc010aad.3_Missense_Mutation_p.E6K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	954					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGCTGCTTATGAAAACTCAAA	0.328000														47			37		0	0	0.00170553	0	0
TMEM156	80008	broad.mit.edu	37	4	39000388	39000388	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:39000388G>A	uc003gto.3	-	1	338	c.230C>T	c.(229-231)cCc>cTc	p.P77L	TMEM156_uc010ifj.3_Missense_Mutation_p.P77L	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	77						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAAATTGGAGGGATTTAGAAA	0.368000														15			6		0	0	8.12818e-05	0	0
LRCH4	4034	broad.mit.edu	37	7	100175319	100175320	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:100175319_100175320GG>AA	uc003uvj.3	-	8	1136_1137	c.1083_1084CC>TT	c.(1081-1086)gtcccc>gtTTcc	p.P362S	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	362					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCCCCGGGGACATGGCTGT	0.663000														74			45		0	0	6.4e-05	0	0
TRNT1	51095	broad.mit.edu	37	3	3170788	3170788	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:3170788C>T	uc003bpp.4	+	1	166	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	TRNT1_uc003bpk.2_Non-coding_Transcript|TRNT1_uc010hbv.3_Missense_Mutation_p.L22F|TRNT1_uc003bpm.2_Non-coding_Transcript|TRNT1_uc003bpn.1_Non-coding_Transcript|TRNT1_uc003bpo.1_5'Flank	NM_182916	NP_886552	Q96Q11	TRNT1_HUMAN	Homo sapiens tRNA nucleotidyl transferase, CCA-adding, 1 (TRNT1), nuclear gene encoding mitochondrial protein, mRNA.	22					protein targeting to mitochondrion|tRNA 3'-end processing	mitochondrion	ATP binding|tRNA adenylyltransferase activity|tRNA binding			breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1)	12				Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011)		TAGGCTGTGCCTTCCGAAGCA	0.493000														47			33		0	0	0.000409698	0	0
TACC2	10579	broad.mit.edu	37	10	123971070	123971070	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:123971070C>T	uc001lfv.3	+	8	7490	c.7130C>T	c.(7129-7131)tCc>tTc	p.S2377F	TACC2_uc001lfw.3_Missense_Mutation_p.S523F|TACC2_uc009xzx.3_Missense_Mutation_p.S2332F|TACC2_uc010qtv.2_Missense_Mutation_p.S2381F|TACC2_uc001lfx.3_Missense_Mutation_p.S81F|TACC2_uc001lfy.3_Missense_Mutation_p.S81F|TACC2_uc001lfz.3_Missense_Mutation_p.S455F|TACC2_uc001lga.3_Missense_Mutation_p.S455F|TACC2_uc009xzy.3_Missense_Mutation_p.S455F|TACC2_uc001lgb.3_Missense_Mutation_p.S412F|TACC2_uc010qtw.1_Missense_Mutation_p.S472F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2377	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGTGATGAGTCCGTTGACCCC	0.493000														84			74		0	0	0.000781405	0	0
FAM179A	165186	broad.mit.edu	37	2	29240726	29240726	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:29240726G>A	uc010ezl.3	+	9	1615	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	422							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ATGCAGAAACGACGTCAGCAT	0.667000														17			9		0	0	0.000442599	0	0
RFX6	222546	broad.mit.edu	37	6	117248462	117248462	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:117248462C>T	uc003pxm.3	+	16	2221	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	720					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTCTATCCTCATCACACCGA	0.527000														4			12		0	0	0.000978159	0	0
GPR85	54329	broad.mit.edu	37	7	112724689	112724689	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:112724689T>A	uc010ljv.2	-	1	605	c.88A>T	c.(88-90)Ata>Tta	p.I30L	GPR85_uc003vgp.1_Missense_Mutation_p.I30L|GPR85_uc003vgq.2_Missense_Mutation_p.I30L|GPR85_uc010ljw.1_Missense_Mutation_p.I30L|GPR85_uc022akd.1_Missense_Mutation_p.I30L	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	30						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACTCCTATTATGAAACCCAAG	0.453000														37			17		0	0	0.000958276	0	0
CDC14C	168448	broad.mit.edu	37	7	48965380	48965380	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:48965380C>T	uc010kyv.1	+	0	1224	c.1112C>T	c.(1111-1113)tCc>tTc	p.S371F						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GATGACATTTCCATAAATGGG	0.483000														16			8		0	0	0.000157383	0	0
OR10K1	391109	broad.mit.edu	37	1	158436191	158436191	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158436191C>T	uc010pij.2	+	0	840	c.840C>T	c.(838-840)atC>atT	p.I280I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	280					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)					CATACACCATCCTTACCCCAT	0.393000														50			26		0	0	0.001512	0	0
TRPC1	7220	broad.mit.edu	37	3	142503749	142503749	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:142503749C>T	uc003evc.3	+	6	1300	c.1164C>T	c.(1162-1164)atC>atT	p.I388I	TRPC1_uc003evb.3_Silent_p.I354I	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	388					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E387E(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TGAAATTTATCATTCATGGAG	0.373000														17			14		0	0	0.000219431	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324840	79324840	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr9:79324840T>A	uc010mpk.3	-	7	2474	c.2350A>T	c.(2350-2352)Aat>Tat	p.N784Y	PRUNE2_uc022bih.1_Missense_Mutation_p.N606Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	784					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGTAGGATTTCCCCAGGGC	0.493000														6			8		0	0	0.000274275	0	0
ZNF814	730051	broad.mit.edu	37	19	58384955	58384955	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:58384955C>T	uc002qqo.2	-	2	2075	c.1803G>A	c.(1801-1803)gaG>gaA	p.E601E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	601					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CATAAGGCCTCTCTCCAGTAT	0.473000														14			23		0	0	0.000720815	0	0
WDR12	55759	broad.mit.edu	37	2	203764315	203764316	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:203764315_203764316GG>TT	uc002uzl.3	-	3	1026_1027	c.276_277CC>AA	c.(274-279)ccccag>ccAAag	p.Q93K		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	93					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TGCTCTGGCTGGGGTGCAGTAT	0.396000														560			14		0	0	6.4e-05	0	0
MYO18B	84700	broad.mit.edu	37	22	26164791	26164791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:26164791G>A	uc003abz.1	+	3	1158	c.908G>A	c.(907-909)gGg>gAg	p.G303E	MYO18B_uc003aca.1_Missense_Mutation_p.G184E|MYO18B_uc010guy.1_Missense_Mutation_p.G184E|MYO18B_uc010guz.1_Missense_Mutation_p.G184E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	303						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin 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						AAGGACGTAGGGAGTGAAGGG	0.587000														5			3		0	0	6.4e-05	0	0
HUWE1	10075	broad.mit.edu	37	X	53642793	53642793	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:53642793T>G	uc004dsp.3	-	21	2363	c.1961A>C	c.(1960-1962)gAt>gCt	p.D654A		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	654					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGATGCAGTATCCCCTTAAGG	0.418000														2			8		0	0	0.000442599	0	0
NUFIP1	26747	broad.mit.edu	37	13	45563205	45563205	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:45563205A>G	uc001uzp.2	-	0	409	c.367T>C	c.(367-369)Tct>Cct	p.S123P	KIAA1704_uc010tfo.1_5'Flank|KIAA1704_uc001uzq.3_5'Flank|KIAA1704_uc001uzr.1_5'Flank|KIAA1704_uc001uzs.3_5'Flank	NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	123					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CTATCAGAAGACTGTCTCCAA	0.537000														25			14		0	0	0.00074312	0	0
SLC10A3	8273	broad.mit.edu	37	X	153715943	153715943	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:153715943G>A	uc022cig.1	-	0	1337	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.S417F|SLC10A3_uc004flq.3_Missense_Mutation_p.S446F|SLC10A3_uc004flp.3_Missense_Mutation_p.S446F	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	446					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGGGCCTGGGAGGCATAGTC	0.627000														8			24		0	0	0.000720815	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454455	6454455	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6454455A>C	uc002mex.1	-	5	816	c.674T>G	c.(673-675)aTc>aGc	p.I225S	SLC25A23_uc002mev.3_Non-coding_Transcript|SLC25A23_uc010xjd.1_Missense_Mutation_p.I42S	NM_024103	NP_077008	Q9BV35	SCMC3_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23 (SLC25A23), nuclear gene encoding mitochondrial protein, mRNA.	225					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CCCCCCAAGGATGTTCAGCCG	0.597000														54			27		0	0	0.001512	0	0
FAM129A	116496	broad.mit.edu	37	1	184775092	184775092	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:184775092G>A	uc001gra.3	-	10	1628	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L	FAM129A_uc001grb.1_Silent_p.L241L|FAM129A_uc009wyh.1_Silent_p.L306L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	478					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTAAGACTCGGAGTTTAACCT	0.433000											OREG0014050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			21		0	0	0.000375601	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158027	26158027	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chrX:26158027G>A	uc022bub.1	+	0	925	c.925G>A	c.(925-927)Gat>Aat	p.D309N	MAGEB18_uc004dbq.2_Missense_Mutation_p.D309N	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	309							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGCTTTGAGGGATGAGGAACA	0.522000														1			12		0	0	0.00136819	0	0
NF1	4763	broad.mit.edu	37	17	29486027	29486027	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:29486027G>A	uc002hgg.3	+	3	588	c.205_splice	c.e3-1	p.R69_splice	NF1_uc002hge.2_Splice_Site_p.R69_splice|NF1_uc002hgf.2_Splice_Site_p.R69_splice|NF1_uc002hgh.3_Splice_Site_p.R69_splice|NF1_uc010csn.2_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	69					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTCTGTTAGAGAATATTTG	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				41			16		0	0	0.000422831	0	0
OR2T1	26696	broad.mit.edu	37	1	248570104	248570104	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248570104G>A	uc010pzm.2	+	0	809	c.809G>A	c.(808-810)cGa>cAa	p.R270Q		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	270					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)			TCCTATGCCCGAATCCTGACT	0.507000														27			10		0	0	0.000673444	0	0
SP6	80320	broad.mit.edu	37	17	45924965	45924965	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:45924965C>G	uc002imh.1	-	1	1109	c.831G>C	c.(829-831)tgG>tgC	p.W277C	SP6_uc002img.1_Missense_Mutation_p.W277C|SP6_uc021tzc.1_Missense_Mutation_p.W277C	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CGCCGCTGTGCCAGCGCAGGT	0.662000														19			18		0	0	0.00074312	0	0
CREB3L4	148327	broad.mit.edu	37	1	153941080	153941080	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:153941080G>A	uc001fdm.1	+	1	347	c.79G>A	c.(79-81)Gag>Aag	p.E27K	SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Missense_Mutation_p.E27K|CREB3L4_uc010pef.1_5'UTR|CREB3L4_uc001fdo.3_Missense_Mutation_p.E27K|CREB3L4_uc010peg.1_Missense_Mutation_p.E27K|CREB3L4_uc001fdr.2_Missense_Mutation_p.E27K|CREB3L4_uc001fdq.2_Missense_Mutation_p.E27K	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	27					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCCGTCCTGGAGCTGGGACT	0.622000														65			31		0	0	0.000339439	0	0
LOC728024	728024	broad.mit.edu	37	8	37604959	37604959	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:37604959C>T	uc010lvx.2	-	0	606	c.564G>A	c.(562-564)caG>caA	p.Q188Q	ERLIN2_uc003xke.4_Intron					Homo sapiens chromosome X open reading frame 56 pseudogene (LOC728024), non-coding RNA.																		TGCGCTCCAGCTGTTTTTCAA	0.478000														91			44		0	0	0.000781405	0	0
LIPF	8513	broad.mit.edu	37	10	90427426	90427426	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:90427426A>T	uc001kfg.2	+	2	320	c.206A>T	c.(205-207)aAa>aTa	p.K69I	LIPF_uc009xtk.3_Missense_Mutation_p.K69I|LIPF_uc001kfh.2_Missense_Mutation_p.K79I|LIPF_uc010qmt.2_Missense_Mutation_p.K79I|LIPF_uc010qmu.2_Missense_Mutation_p.K69I	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	69					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TATGGGAAGAAAAATTCAGGG	0.353000														65			52		0	0	0.000781405	0	0
ACAN	176	broad.mit.edu	37	15	89401287	89401287	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:89401287G>A	uc010upo.1	+	11	5845	c.5471G>A	c.(5470-5472)gGt>gAt	p.G1824D	ACAN_uc010upp.1_Missense_Mutation_p.G1824D|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1824					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGCAGCGGTGAATCTTCT	0.532000														18			16		0	0	0.000566183	0	0
abParts	0	broad.mit.edu	37	2	90249246	90249246	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:90249246C>T	uc010yts.2	+	39		c.5081C>T								Parts of antibodies, mostly variable regions.																		AGCCCCTAAGCTCTTCATCTA	0.502000														61			47		0	0	0.000781405	0	0
DFNA5	1687	broad.mit.edu	37	7	24747848	24747848	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:24747848G>A	uc010kus.1	-	6	976	c.888C>T	c.(886-888)ttC>ttT	p.F296F	DFNA5_uc003sxa.1_Silent_p.F296F|DFNA5_uc010kut.1_Silent_p.F132F	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	296					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CAAATGGATGGAAATTCCTCT	0.517000														17			15		0	0	0.000422831	0	0
DNAH2	146754	broad.mit.edu	37	17	7679359	7679359	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7679359G>A	uc002giu.1	+	29	4853	c.4839G>A	c.(4837-4839)gtG>gtA	p.V1613V		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1613	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1612N(1)		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)				TTGGCGATGTGGAACAGACCA	0.617000														36			23		0	0	0.00127121	0	0
SFTPD	6441	broad.mit.edu	37	10	81701243	81701243	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:81701243C>T	uc001kbh.3	-	5	621	c.578G>A	c.(577-579)gGa>gAa	p.G193E		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	193	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			ACCTGGACTTCCCTGGGGACC	0.507000														43			15		0	0	0.000958276	0	0
USP6	9098	broad.mit.edu	37	17	5058756	5058756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:5058756C>T	uc002gau.1	+	30	4913	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	USP6_uc002gav.1_Missense_Mutation_p.R895C|USP6_uc010ckz.1_Missense_Mutation_p.R578C	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	895					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAGGAGAATCGCCCCAGCCT	0.458000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									55			37		0	0	0.000509022	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254924	24254924	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:24254924G>A	uc003xdz.2	+	5	802	c.582G>A	c.(580-582)ggG>ggA	p.G194G	ADAMDEC1_uc010lub.2_Silent_p.G115G|ADAMDEC1_uc011lab.1_Silent_p.G115G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	194					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCACTGACGGGAAACAAGGCC	0.448000														32			18		0	0	0.00152264	0	0
HELB	92797	broad.mit.edu	37	12	66725067	66725067	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:66725067C>T	uc001sti.2	+	11	2832	c.2804C>T	c.(2803-2805)gCc>gTc	p.A935V	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	935					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTCCGGAATGCCATTATGAAA	0.542000														6			53		0	0	0.000781405	0	0
MECOM	2122	broad.mit.edu	37	3	168833494	168833494	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:168833494C>T	uc011bpj.1	-	7	2569	c.2166G>A	c.(2164-2166)atG>atA	p.M722I	MECOM_uc010hwk.1_Missense_Mutation_p.M557I|MECOM_uc003ffj.3_Missense_Mutation_p.M599I|MECOM_uc003ffi.3_Missense_Mutation_p.M534I|MECOM_uc011bpi.1_Missense_Mutation_p.M535I|MECOM_uc003ffn.3_Missense_Mutation_p.M534I|MECOM_uc003ffk.2_Missense_Mutation_p.M534I|MECOM_uc003ffl.2_Missense_Mutation_p.M694I|MECOM_uc011bpk.1_Missense_Mutation_p.M534I|MECOM_uc010hwn.2_Missense_Mutation_p.M722I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTGGGGTTCCATTTTCAAAG	0.458000														18			8		0	0	0.000157383	0	0
ANK3	288	broad.mit.edu	37	10	61955965	61955965	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:61955965C>G	uc001jky.3	-	15	2163	c.1825G>C	c.(1825-1827)Gat>Cat	p.D609H	ANK3_uc010qih.2_Missense_Mutation_p.D592H|ANK3_uc001jkz.4_Missense_Mutation_p.D603H|ANK3_uc001jlb.1_Missense_Mutation_p.D138H|ANK3_uc001jlc.1_Missense_Mutation_p.D270H	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	609					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						TTCTGATTATCGTAATGTGCA	0.483000														18			14		0	0	0.000219431	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12955423	12955423	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12955423C>T	uc001auo.3	-	1	329	c.256G>A	c.(256-258)Gat>Aat	p.D86N		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	86										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCAGTGTATCAAGTCCCCTC	0.607000														6			16		0	0	0.000566183	0	0
BICC1	80114	broad.mit.edu	37	10	60273023	60273023	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:60273023C>T	uc001jki.1	+	0	120	c.120C>T	c.(118-120)acC>acT	p.T40T		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	40					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						CCGGGGCGACCCTGCACAGCC	0.677000														16			9		0	0	0.000673444	0	0
PCLO	27445	broad.mit.edu	37	7	82579434	82579434	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:82579434C>T	uc003uhx.2	-	5	10759	c.10470G>A	c.(10468-10470)agG>agA	p.R3490R	PCLO_uc003uhv.2_Silent_p.R3490R|PCLO_uc010lec.3_Silent_p.R455R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3421					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						CACGAGCTTTCCTCCTTGATC	0.458000														26			17		0	0	0.00121646	0	0
PLCH1	23007	broad.mit.edu	37	3	155282851	155282851	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:155282851C>T	uc021xge.1	-	6	1163	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	PLCH1_uc021xgd.1_Missense_Mutation_p.E296K|PLCH1_uc021xgf.1_Missense_Mutation_p.E278K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	296					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGTACACTTCATGGTGCAAT	0.448000														24			7		0	0	0.000274275	0	0
DEFA5	1670	broad.mit.edu	37	8	6914065	6914065	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:6914065G>A	uc003wra.1	-	0	195	c.155C>T	c.(154-156)tCt>tTt	p.S52F		NM_021010	NP_066290	Q01523	DEF5_HUMAN	Homo sapiens defensin, alpha 5, Paneth cell-specific (DEFA5), mRNA.	52					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TCTAAGAGCAGAGAGTCCATT	0.473000														63			56		0	0	0.000781405	0	0
EPHB3	2049	broad.mit.edu	37	3	184298565	184298565	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:184298565C>T	uc003foz.3	+	12	2874	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	813	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CATAGCCTATCGGAAGTTCAC	0.607000														23			18		0	0	0.00074312	0	0
KDM5B	10765	broad.mit.edu	37	1	202702783	202702783	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:202702783G>T	uc009xag.3	-	23	3879	c.3763C>A	c.(3763-3765)Ccc>Acc	p.P1255T	KDM5B_uc001gyf.3_Missense_Mutation_p.P1219T|KDM5B_uc001gyg.1_Missense_Mutation_p.P1061T	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1219					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGACAATGGGGACAAAGCCAG	0.537000														36			9		0.000274275	0.00160792	0.000274275	1	0
TDRD5	163589	broad.mit.edu	37	1	179603722	179603722	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:179603722G>T	uc010pnp.2	+	7	1775	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	TDRD5_uc021pfm.1_Missense_Mutation_p.K419N|TDRD5_uc001gnf.2_Missense_Mutation_p.K419N|TDRD5_uc021pfn.1_Missense_Mutation_p.K419N|TDRD5_uc001gnh.2_5'UTR	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	419					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CACAACAGAAGATTTGCAAGA	0.408000														69			25		1.42536e-11	8.4795e-11	0.000720815	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46917580	46917580	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:46917580C>T	uc010acl.3	-	14	2534	c.1929G>A	c.(1927-1929)cgG>cgA	p.R643R	KIAA0226L_uc010tfy.2_Silent_p.R166R|KIAA0226L_uc001vbf.4_Silent_p.R576R|KIAA0226L_uc010tfz.2_Silent_p.R486R|KIAA0226L_uc010acn.3_Silent_p.R428R|KIAA0226L_uc010acm.3_Silent_p.R508R|KIAA0226L_uc001vbe.4_Missense_Mutation_p.G592D|KIAA0226L_uc001vbh.4_Silent_p.R643R|KIAA0226L_uc001vbi.4_Silent_p.R486R	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	643										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCCTCGCACACCGGGGGCACT	0.517000														19			7		0	0	0.000157383	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:11461597C>T	uc001qzf.1	-	2	354	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_uc001qzt.3_Missense_Mutation_p.G107E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	149	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		p.G106R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)				65			97		0	0	0.000781405	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884947	12884947	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:12884947C>T	uc001auk.2	-	3	1360	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	388										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAAATCTGCTCCAGCAGAGAG	0.493000														141			111		0	0	0.000781405	0	0
UVSSA	57654	broad.mit.edu	37	4	1369270	1369270	+	Silent	SNP	C	T	T	rs143426578		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:1369270C>T	uc003gde.4	+	8	1854	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	UVSSA_uc010ibv.3_Silent_p.D20D	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	469																	AGCTCCGGGACCACTTGCCTC	0.672000														34			15		0	0	0.000422831	0	0
TPTE2	93492	broad.mit.edu	37	13	20048054	20048054	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:20048054C>T	uc001umd.3	-	7	603	c.392_splice	c.e7+1	p.G131_splice	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Splice_Site_p.G94_splice|TPTE2_uc009zzm.3_Splice_Site|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	131						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCAAACTTACCCTTCTACAAA	0.363000														21			12		0	0	0.00136819	0	0
GLRA3	8001	broad.mit.edu	37	4	175580303	175580303	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:175580303G>A	uc003ity.1	-	7	1476	c.973C>T	c.(973-975)Ctt>Ttt	p.L325F	GLRA3_uc003itz.1_Missense_Mutation_p.L325F	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	325					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AACACAAAAAGGAGGCATACT	0.358000														12			8		0	0	0.000157383	0	0
SCTR	6344	broad.mit.edu	37	2	120221773	120221773	+	Missense_Mutation	SNP	G	A	A	rs142033327		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:120221773G>A	uc002tma.3	-	5	788	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	SCTR_uc002tlz.3_Missense_Mutation_p.R10C	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	188					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GACAGGGCACGAAGGATGAAG	0.557000														28			26		0	0	0.000586117	0	0
CDH6	1004	broad.mit.edu	37	5	31294328	31294328	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:31294328T>A	uc003jhe.2	+	2	848	c.488T>A	c.(487-489)gTt>gAt	p.V163D	CDH6_uc003jhd.2_Missense_Mutation_p.V163D	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	163	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACCAAGGAGGTTTACACAGCC	0.478000														41			23		0	0	0.000878237	0	0
BARX2	8538	broad.mit.edu	37	11	129306867	129306867	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:129306867C>T	uc001qfc.4	+	1	459	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	137										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCGCCGGAGTCGCACCATCTT	0.632000														1			5		0	0	0.000602214	0	0
SCN10A	6336	broad.mit.edu	37	3	38739732	38739732	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:38739732G>A	uc003ciq.3	-	26	4979	c.4979C>T	c.(4978-4980)tCg>tTg	p.S1660L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1660					sensory perception	voltage-gated sodium channel complex		p.T1659K(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGCCGGCCGACGTGGTAAT	0.607000														41			33		0	0	0.000692331	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156556	6156556	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:6156556C>T	uc002mef.1	+	4	728	c.501C>T	c.(499-501)atC>atT	p.I167I	ACSBG2_uc002mee.1_Intron|ACSBG2_uc002meg.1_Silent_p.I167I|ACSBG2_uc002meh.1_Silent_p.I167I|ACSBG2_uc002mei.1_Silent_p.I117I|ACSBG2_uc010xiz.1_Silent_p.I167I	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	167					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TACAGAAAATCCTTTCGGTAA	0.463000														79			60		0	0	0.000781405	0	0
PTPN5	84867	broad.mit.edu	37	11	18763942	18763942	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:18763942C>T	uc001mpd.3	-	6	1023	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PTPN5_uc001mpb.3_Missense_Mutation_p.E166K|PTPN5_uc001mpc.3_Missense_Mutation_p.E198K|PTPN5_uc010rdj.2_Missense_Mutation_p.E142K|PTPN5_uc001mpf.3_Missense_Mutation_p.E174K|PTPN5_uc001mpe.3_Missense_Mutation_p.E166K|PTPN5_uc010rdk.2_Missense_Mutation_p.E143K	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	198						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ATCTTCTCCTCCATCCACTCT	0.622000														8			36		0	0	0.000491102	0	0
OR2W3	343171	broad.mit.edu	37	1	248059135	248059135	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248059135T>C	uc010pzb.2	+	0	247	c.247T>C	c.(247-249)Tac>Cac	p.Y83H	OR2W3_uc001idp.1_Missense_Mutation_p.Y83H	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	83					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)			CCAGCTGCTCTACAACCTTAA	0.587000														78			35		0	0	0.000953801	0	0
BATF3	55509	broad.mit.edu	37	1	212860307	212860307	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:212860307C>T	uc001hjl.2	-	2	433	c.210G>A	c.(208-210)ctG>ctA	p.L70L		NM_018664	NP_061134	Q9NR55	BATF3_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like 3 (BATF3), mRNA.	70	Leucine-zipper.				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		TTTCTTGCTCCAGGCTCTCAT	0.572000														68			116		0	0	0.000781405	0	0
PPP1R11	6992	broad.mit.edu	37	6	30036459	30036459	+	Silent	SNP	C	T	T	rs140805312		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:30036459C>T	uc003npb.3	+	1	418	c.162C>T	c.(160-162)ggC>ggT	p.G54G	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	54						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						AACACATGGGCCGCCGCTCAT	0.498000														59			31		0	0	0.00178596	0	0
DSCAM	1826	broad.mit.edu	37	21	41719737	41719737	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41719737C>T	uc002yyq.1	-	5	1522	c.1070G>A	c.(1069-1071)gGa>gAa	p.G357E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	357	Ig-like C2-type 4.				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)				CACATTTTTTCCAGGGTTGAG	0.507000														68			64		0	0	0.000781405	0	0
HYDIN	54768	broad.mit.edu	37	16	71015398	71015398	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:71015398C>T	uc002ezr.3	-	28	4554	c.4403G>A	c.(4402-4404)aGg>aAg	p.R1468K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1469										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGGAAACTCCTTTTAAAGAC	0.478000														52			49		0	0	0.000781405	0	0
ZNF701	55762	broad.mit.edu	37	19	53086149	53086149	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53086149C>T	uc010ydn.2	+	4	1098	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	ZNF701_uc002pzs.2_Silent_p.F279F|ZNF701_uc021uyw.1_Silent_p.F345F	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GCAAGACATTCAGTCACAATT	0.418000														22			17		0	0	0.000566183	0	0
GPR19	2842	broad.mit.edu	37	12	12815020	12815020	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:12815020G>A	uc001rar.3	-	1	556	c.363C>T	c.(361-363)ttC>ttT	p.F121F	GPR19_uc001raq.2_Silent_p.F121F|GPR19_uc021qvj.1_Silent_p.F121F	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	121						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GGAGCAGGACGAAAGGCGTGC	0.522000														11			39		0	0	0.00128727	0	0
POLE2	5427	broad.mit.edu	37	14	50131859	50131859	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:50131859G>A	uc001wwu.3	-	7	776	c.599C>T	c.(598-600)cCt>cTt	p.P200L	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_5'Flank|POLE2_uc021rsr.1_Missense_Mutation_p.P174L|POLE2_uc010ano.3_Missense_Mutation_p.P200L	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	200					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					TGTTCCAGTAGGATCTTCCAG	0.284000														22			15		0	0	0.00121646	0	0
TGIF2	60436	broad.mit.edu	37	20	35240542	35240543	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr20:35240542_35240543CC>TT	uc002xfr.3	+	2	566_567	c.348_349CC>TT	c.(346-351)gcccct>gcTTct	p.P117S	TGIF2_uc002xfo.3_3'UTR|TGIF2_uc002xfs.3_3'UTR|TGIF2_uc002xfq.3_3'UTR|TGIF2_uc002xft.3_Non-coding_Transcript	NM_199483	NP_955777	Q9GZN2	TGIF2_HUMAN	Homo sapiens chromosome 20 open reading frame 24 (C20orf24), transcript variant 2, mRNA.	230	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GAACCCCAGCCCCTTGGAACTT	0.500000														164			92		0	0	6.4e-05	0	0
SPTA1	6708	broad.mit.edu	37	1	158615073	158615073	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:158615073C>T	uc001fst.1	-	28	4298	c.4099G>A	c.(4099-4101)Gaa>Aaa	p.E1367K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1367					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)					AGCTTTTTTTCAATTTCAGGG	0.507000														32			29		0	0	0.000339439	0	0
NSUN4	387338	broad.mit.edu	37	1	46827414	46827414	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:46827414A>T	uc001cpr.1	+	5	1160	c.1051A>T	c.(1051-1053)Aca>Tca	p.T351S	NSUN4_uc010omc.1_Missense_Mutation_p.T302S|NSUN4_uc009vyf.1_Missense_Mutation_p.T200S|NSUN4_uc009vyg.1_Missense_Mutation_p.T302S|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	351							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					TTTCATGGACACATTTTGTTT	0.488000														72			40		0	0	0.00128727	0	0
CDH16	1014	broad.mit.edu	37	16	66951570	66951570	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:66951570C>T	uc002eql.3	-	2	298	c.104G>A	c.(103-105)gGa>gAa	p.G35E	CDH16_uc010cdy.3_Missense_Mutation_p.G35E|CDH16_uc021tjx.1_Missense_Mutation_p.G35E|CDH16_uc002eqm.3_Missense_Mutation_p.G35E	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	35	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AGGGAAATTTCCACCATAGTT	0.582000														13			11		0	0	0.000219431	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140857635	140857635	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140857635A>G	uc003lkv.2	+	0	2067	c.1952A>G	c.(1951-1953)aAt>aGt	p.N651S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.N651S|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	651	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAAAGACAATGGGGAGCCT	0.577000											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			38		0	0	0.000692331	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95201808	95201808	+	Silent	SNP	C	T	T	rs143809731		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:95201808C>T	uc003htb.4	+	19	2667	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	SMARCAD1_uc003htc.4_Silent_p.F828F|SMARCAD1_uc003htd.4_Silent_p.F830F|SMARCAD1_uc010ila.3_Silent_p.F693F|SMARCAD1_uc011cdw.2_Silent_p.F398F	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	828					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGACAGACTTCGAACTACATG	0.343000														68			52		0	0	0.000781405	0	0
FGF9	2254	broad.mit.edu	37	13	22275499	22275499	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:22275499C>T	uc001uog.2	+	2	1389	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_002010	NP_002001	P31371	FGF9_HUMAN	Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA.	184					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		ACCAGAAATTCACACATTTTT	0.433000														29			12		0	0	0.00136819	0	0
PRUNE	58497	broad.mit.edu	37	1	151006312	151006312	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:151006312C>T	uc001ewh.1	+	7	1100	c.964C>T	c.(964-966)Cca>Tca	p.P322S	PRUNE_uc001ewi.1_Missense_Mutation_p.P140S|PRUNE_uc010pco.1_Missense_Mutation_p.P90S|PRUNE_uc001ewj.1_Missense_Mutation_p.P37S|PRUNE_uc001ewk.1_Missense_Mutation_p.P87S|BNIPL_uc009wmi.2_5'Flank|BNIPL_uc001ewl.2_5'Flank	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	Homo sapiens prune homolog (Drosophila) (PRUNE), mRNA.	322						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTCCCACTCTCCACCCCTGAA	0.512000														131			42		0	0	0.000680045	0	0
FRMPD2	143162	broad.mit.edu	37	10	49444536	49444537	+	Missense_Mutation	DNP	CC	TT	TT	rs148563650		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:49444536_49444537CC>TT	uc001jgi.3	-	8	1312_1313	c.981_982GG>AA	c.(979-984)ccggga>ccAAga	p.G328R	FRMPD2_uc001jgh.3_Missense_Mutation_p.G297R|FRMPD2_uc001jgj.3_Missense_Mutation_p.G297R	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	328					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ACAACCGATCCCGGCAGATGTA	0.550000														36			27		0	0	6.4e-05	0	0
FMN2	56776	broad.mit.edu	37	1	240371608	240371608	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:240371608C>T	uc010pye.2	+	5	3733	c.3508C>T	c.(3508-3510)Ccc>Tcc	p.P1170S	FMN2_uc010pyd.2_Missense_Mutation_p.P1166S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1166	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCACCTCCCCCTCTACC	0.692000														0			7		0	0	0.000978159	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881996	15881996	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:15881996G>A	uc010xor.1	-	3	401	c.381C>T	c.(379-381)atC>atT	p.I127I	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		TGTGCTGGAGGATATGCTGGT	0.552000														31			24		0	0	0.000586117	0	0
SLC12A6	9990	broad.mit.edu	37	15	34536194	34536195	+	Nonsense_Mutation	DNP	GG	AA	AA	rs121908428		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr15:34536194_34536195GG>AA	uc001zhw.3	-	14	2186_2187	c.2022_2023CC>TT	c.(2020-2025)ccccga>ccTTga	p.R675*	SLC12A6_uc001zhv.3_Nonsense_Mutation_p.R624*|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Nonsense_Mutation_p.R660*|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Nonsense_Mutation_p.R616*|SLC12A6_uc001zib.3_Nonsense_Mutation_p.R666*|SLC12A6_uc001zic.3_Nonsense_Mutation_p.R675*|SLC12A6_uc010bau.3_Nonsense_Mutation_p.R675*|SLC12A6_uc001zid.3_Nonsense_Mutation_p.R616*|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Nonsense_Mutation_p.R487*	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	675					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)	TAGCGGAATCGGGGTCTCCAGT	0.411000														82			50		0	0	6.4e-05	0	0
DSCAM	1826	broad.mit.edu	37	21	41414514	41414514	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:41414514C>T	uc002yyq.1	-	31	5922	c.5470G>A	c.(5470-5472)Gaa>Aaa	p.E1824K	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1824					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)				AGTTGCTCTTCCATCTTGGCG	0.537000														42			38		0	0	0.00170553	0	0
LPGAT1	9926	broad.mit.edu	37	1	211952371	211952371	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:211952371C>T	uc001hiu.3	-	5	1556	c.743G>A	c.(742-744)gGc>gAc	p.G248D	LPGAT1_uc001hiv.3_Missense_Mutation_p.G248D	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA.	248					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		CCACTGGAGGCCTTTTGATTT	0.343000														176			51		0	0	0.000781405	0	0
SPEM1	374768	broad.mit.edu	37	17	7345123	7345123	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:7345123C>T	uc010vtw.1	+	4	412	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	FGF11_uc010cmh.1_Non-coding_Transcript|FGF11_uc010cmi.3_5'UTR|FGF11_uc002ggz.3_Silent_p.L111L|FGF11_uc010vtx.2_Silent_p.L52L			Q8N4L4	SPEM1_HUMAN	Homo sapiens fibroblast growth factor 11 (FGF11), mRNA.	215					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CTGTGGGCCTCCGTGTGGTCA	0.602000														16			13		0	0	0.00074312	0	0
PLXNA1	5361	broad.mit.edu	37	3	126708300	126708300	+	Missense_Mutation	SNP	C	G	G	rs139269120		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:126708300C>G	uc003ejg.3	+	0	864	c.864C>G	c.(862-864)gaC>gaG	p.D288E		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	288	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCTGTGTGGACGACCCCAAAT	0.617000														100			63		0	0	0.000781405	0	0
DIAPH1	1729	broad.mit.edu	37	5	140962857	140962857	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:140962857C>A	uc003llb.4	-	5	677	c.536G>T	c.(535-537)tGg>tTg	p.W179L	DIAPH1_uc003llc.4_Missense_Mutation_p.W170L|DIAPH1_uc021yep.1_Missense_Mutation_p.W179L|DIAPH1_uc021yeq.1_Missense_Mutation_p.W170L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	179	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding	p.W179L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTGCACCCAACTGTAAGG	0.408000														189			8		0.000673444	0.00394229	0.000673444	1	0
PLAG1	5324	broad.mit.edu	37	8	57080812	57080813	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:57080812_57080813GG>AA	uc003xsq.4	-	1	467_468	c.16_17CC>TT	c.(16-18)cct>TTt	p.P6F	PLAG1_uc003xsr.4_Missense_Mutation_p.P6F|PLAG1_uc010lyi.3_Missense_Mutation_p.P6F|PLAG1_uc010lyj.3_Intron|PLAG1_uc022aur.1_5'Flank	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	6	Interacts with KPNA2.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CAAATCACCAGGAATGACAGTG	0.460000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma									23			4		0	0	6.4e-05	0	0
WNT4	54361	broad.mit.edu	37	1	22456166	22456166	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:22456166G>C	uc001bfs.4	-	1	360	c.256C>G	c.(256-258)Cgc>Ggc	p.R86G	WNT4_uc010odt.2_Missense_Mutation_p.R23G	NM_030761	NP_110388	P56705	WNT4_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.	86					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAGTTCCAGCGCCGGTTCCGG	0.662000														26			9		0	0	0.000274275	0	0
LSAMP	4045	broad.mit.edu	37	3	115561418	115561418	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:115561418G>A	uc011bis.2	-	4	1164	c.657C>T	c.(655-657)ccC>ccT	p.P219P	LSAMP_uc003ebs.3_Silent_p.P219P	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	219	Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTGTGATAGTGGGAGGATCTG	0.488000														32			30		0	0	0.00111076	0	0
ILDR1	286676	broad.mit.edu	37	3	121707255	121707255	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:121707255C>T	uc003ees.3	-	8	1803	c.1600_splice	c.e8-1	p.E534_splice	ILDR1_uc003eeq.3_Splice_Site_p.E502_splice|ILDR1_uc003eer.3_Splice_Site_p.E490_splice|ILDR1_uc010hrg.3_Splice_Site_p.E445_splice	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	534						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)		CTGTCTTTCTCCTGGGAAATA	0.433000														18			7		0	0	0.000673444	0	0
DAPK3	1613	broad.mit.edu	37	19	3961032	3961032	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:3961032G>A	uc002lzc.1	-	5	851	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Missense_Mutation_p.R253C	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	253	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGCCGGCGAATGAAGTCC	0.622000														35			21		0	0	0.000720815	0	0
COL16A1	1307	broad.mit.edu	37	1	32167755	32167755	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:32167755G>A	uc001btk.1	-	1	405	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	COL16A1_uc001btl.4_Missense_Mutation_p.L14F	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	14					cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTAGCCCAAAGACCGAGCAGC	0.592000														24			26		0	0	0.00127121	0	0
ZNF28	7576	broad.mit.edu	37	19	53302989	53302989	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:53302989C>A	uc002qad.3	-	3	2266	c.2109G>T	c.(2107-2109)atG>atT	p.M703I	ZNF28_uc002qac.3_Missense_Mutation_p.M649I|ZNF28_uc010eqe.3_Missense_Mutation_p.M649I|ZNF28_uc021uza.1_Missense_Mutation_p.M650I	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAAGGTTTGACATCTGACTGA	0.413000														56			42		5.20837e-25	3.12386e-24	0.000374591	1	0
GPR111	222611	broad.mit.edu	37	6	47649087	47649087	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:47649087C>T	uc010jzj.1	+	5	793	c.792C>T	c.(790-792)atC>atT	p.I264I	GPR111_uc003oyy.3_Silent_p.I196I	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGCTATATCCTGCTACATT	0.408000														38			50		0	0	0.000781405	0	0
BRWD1	54014	broad.mit.edu	37	21	40646331	40646331	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr21:40646331T>A	uc002yxk.2	-	12	1508	c.1213A>T	c.(1213-1215)Att>Ttt	p.I405F	BRWD1_uc021wjf.1_Missense_Mutation_p.I405F|BRWD1_uc010goe.1_Non-coding_Transcript|BRWD1_uc010gof.1_5'UTR|BRWD1_uc010gog.1_Non-coding_Transcript|BRWD1_uc010goh.1_Non-coding_Transcript|BRWD1_uc010goi.1_Missense_Mutation_p.I125F	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCAATAAAATGCTCCTCCAT	0.413000														43			30		0	0	0.000814825	0	0
EGR3	1960	broad.mit.edu	37	8	22548290	22548290	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:22548290C>T	uc003xcm.1	-	1	1218	c.860G>A	c.(859-861)aGc>aAc	p.S287N	EGR3_uc011kzn.1_Missense_Mutation_p.S249N|EGR3_uc011kzo.2_Missense_Mutation_p.S233N	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	287					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GTCCGAACGGCTGAAACGGCG	0.697000														31			22		0	0	0.000229342	0	0
C7	730	broad.mit.edu	37	5	40979906	40979906	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:40979906C>T	uc003jmh.3	+	16	2359	c.2245C>T	c.(2245-2247)Cac>Tac	p.H749Y	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	749	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GCATGTTCTCCACTGTCAGGG	0.468000														27			20		0	0	0.00121646	0	0
WDR33	55339	broad.mit.edu	37	2	128474766	128474766	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:128474766G>A	uc002tpg.2	-	16	3031	c.2832C>T	c.(2830-2832)ccC>ccT	p.P944P		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	944					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTTCAGAGGGGGAATGCGAC	0.488000														13			9		0	0	0.000673444	0	0
CCDC70	83446	broad.mit.edu	37	13	52440032	52440032	+	RNA	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:52440032G>A	uc010tgr.1	-	0		c.188C>T			CCDC70_uc001vfu.4_Missense_Mutation_p.G173E|CCDC70_uc021rjv.1_Missense_Mutation_p.G173E			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTCCTTGAGGGGGAGAAAGCC	0.547000														64			37		0	0	0.00148497	0	0
LRMP	4033	broad.mit.edu	37	12	25232684	25232684	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:25232684G>A	uc001rgh.3	+	7	1325	c.231G>A	c.(229-231)acG>acA	p.T77T	LRMP_uc001rgg.2_Non-coding_Transcript|LRMP_uc010sja.2_Silent_p.T77T|LRMP_uc010sjc.2_Silent_p.T77T|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Silent_p.T24T|LRMP_uc010sjd.2_Silent_p.T24T	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	133					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					CTTCTCCCACGATAGAGGCCC	0.403000														8			30		0	0	0.00106085	0	0
TRAT1	50852	broad.mit.edu	37	3	108568024	108568024	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:108568024G>A	uc003dxi.1	+	4	370	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	TRAT1_uc010hpx.1_Missense_Mutation_p.E39K	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	76					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						ACCAATGGATGAAAATTGCTA	0.343000														33			20		0	0	0.000375601	0	0
PSD	5662	broad.mit.edu	37	10	104176224	104176224	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:104176224G>A	uc001kvg.1	-	1	1099	c.572C>T	c.(571-573)tCt>tTt	p.S191F	PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S191F|PSD_uc001kvi.1_Missense_Mutation_p.S191F|FBXL15_uc001kvj.1_5'Flank	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	191					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATTGGGGAGAGAGGAGTAAAG	0.657000														19			11		0	0	0.000978159	0	0
abParts	0	broad.mit.edu	37	14	107013292	107013292	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:107013292C>T	uc021ser.1	-	218		c.8584G>A								Parts of antibodies, mostly variable regions.																		CCACACATATCCACTGTTTCT	0.488000														28			22		0	0	0.000229342	0	0
PRB4	5545	broad.mit.edu	37	12	11461723	11461723	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:11461723C>T	uc001qzf.1	-	2	228	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PRB4_uc001qzt.3_Missense_Mutation_p.G65E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	65	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						GGACTGGTTTCCTCCTTGTGG	0.622000										HNSCC(22;0.051)				178			25		0	0	0.000878237	0	0
LILRB3	11025	broad.mit.edu	37	19	54725813	54725813	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:54725813G>A	uc010erh.1	-	3	669	c.545C>T	c.(544-546)cCt>cTt	p.P182L	LILRB3_uc002qee.1_Missense_Mutation_p.P182L|LILRB3_uc002qef.1_Missense_Mutation_p.P182L|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Missense_Mutation_p.P182L|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Missense_Mutation_p.P182L|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	182	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGCCCACAGGGAACAGGGC	0.592000														11			8		0	0	0.000219431	0	0
CDC25A	993	broad.mit.edu	37	3	48205896	48205896	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:48205896A>G	uc003csh.1	-	12	1587	c.1223T>C	c.(1222-1224)gTt>gCt	p.V408A	CDC25A_uc003csi.1_Missense_Mutation_p.V368A|CDC25A_uc021wxk.1_Missense_Mutation_p.V367A	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	408	Rhodanese.				DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GAAGTCTTCAACCTCTTCTTC	0.458000														22			14		0	0	0.000219431	0	0
CSMD1	64478	broad.mit.edu	37	8	3165304	3165304	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:3165304C>T	uc022aqr.1	-	24	4253	c.3863G>A	c.(3862-3864)cGa>cAa	p.R1288Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R681Q|CSMD1_uc003wqe.3_Missense_Mutation_p.R445Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1289	CUB 8.					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)		GGACAATATTCGTCCTGATGT	0.478000														45			30		0	0	0.00127121	0	0
PRR23A	729627	broad.mit.edu	37	3	138724486	138724486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:138724486C>T	uc011bms.2	-	0	625	c.625G>A	c.(625-627)Gga>Aga	p.G209R		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	209	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						GGAGAGTGTCCCTCTGAACTG	0.652000														4			5		0	0	0.000602214	0	0
TPO	7173	broad.mit.edu	37	2	1426834	1426834	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:1426834C>T	uc002qwr.3	+	2	198	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.R38C|TPO_uc002qww.3_Missense_Mutation_p.R38C|TPO_uc002qwx.3_Missense_Mutation_p.R38C|TPO_uc002qwu.3_Missense_Mutation_p.R38C|TPO_uc010yio.2_Missense_Mutation_p.R38C|TPO_uc010yip.2_Missense_Mutation_p.R38C	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	38					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGAGGAGTCTCGTGTCTCTAG	0.562000														26			10		0	0	0.000442599	0	0
CPB1	1360	broad.mit.edu	37	3	148577634	148577634	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:148577634T>G	uc003ewl.3	+	10	1122	c.1099T>G	c.(1099-1101)Tat>Gat	p.Y367D		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	367					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CGACTGGGCTTATGACCAAGG	0.453000														54			41		0	0	0.000437636	0	0
SI	6476	broad.mit.edu	37	3	164773008	164773008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:164773008C>T	uc003fei.3	-	12	1549	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	496	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TATTGCACTTCTTGATGGAAA	0.348000										HNSCC(35;0.089)				23			8		0	0	0.000274275	0	0
SSPO	23145	broad.mit.edu	37	7	149510776	149510776	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:149510776C>T	uc010lpk.3	+	70	10052	c.10052C>T	c.(10051-10053)tCc>tTc	p.S3351F		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3354	TIL 5.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTACTGAGTTCCAACGGGGCC	0.667000														5			10		0	0	0.000673444	0	0
ADAM29	11086	broad.mit.edu	37	4	175897470	175897470	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:175897470C>T	uc003iuc.3	+	4	1464	c.794C>T	c.(793-795)tCt>tTt	p.S265F	ADAM29_uc003iud.3_Missense_Mutation_p.S265F|ADAM29_uc010irr.3_Missense_Mutation_p.S265F|ADAM29_uc011cki.2_Missense_Mutation_p.S265F|ADAM29_uc021xuo.1_Missense_Mutation_p.S265F	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	265	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTAAGGAAATCTGTGCACCTG	0.408000														35			21		0	0	0.000295444	0	0
CLDN16	10686	broad.mit.edu	37	3	190122569	190122569	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:190122569G>A	uc003fsi.3	+	2	694	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	CLDN16_uc010hze.3_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	149			R -> L (in HOMG3).		calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GTGGTAACTCGAGCGTTGATG	0.448000														62			35		0	0	0.00170553	0	0
FLT3	2322	broad.mit.edu	37	13	28622539	28622539	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:28622539C>T	uc001urw.3	-	8	1160	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.E360K	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	360					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGTCAATTTCATAATCTTCA	0.323000			"""Mis, O"""		"""AML, ALL"""									27			29		0	0	0.00106085	0	0
FMNL1	752	broad.mit.edu	37	17	43321209	43321209	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:43321209C>T	uc002iin.3	+	17	2465	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	FMNL1_uc002iiq.3_Silent_p.F333F|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.F82F	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	755	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGATGCGCTTCCTGCCCACAG	0.602000														12			17		0	0	0.00121646	0	0
IFT172	26160	broad.mit.edu	37	2	27676565	27676565	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:27676565G>T	uc002rku.3	-	33	3804	c.3753C>A	c.(3751-3753)gaC>gaA	p.D1251E	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1251					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGCACATAGTCCTTGCAGA	0.577000														37			26		1.68575e-08	9.96972e-08	0.00127121	1	0
COL4A1	1282	broad.mit.edu	37	13	110822958	110822958	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr13:110822958G>A	uc001vqw.4	-	41	3800	c.3678C>T	c.(3676-3678)tcC>tcT	p.S1226S		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1226	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CATGGCCTGGGGATCCCGGTA	0.672000														16			8		0	0	0.000442599	0	0
PKP3	11187	broad.mit.edu	37	11	396916	396916	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:396916G>A	uc021qbk.1	+	3	489	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	PKP3_uc001lpc.3_Missense_Mutation_p.G139R	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	139					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCCACAACGGGGGCAGCGC	0.711000														1			12		0	0	0.00136819	0	0
PTPRJ	5795	broad.mit.edu	37	11	48177548	48177548	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:48177548C>T	uc001ngp.4	+	20	3670	c.3315C>T	c.(3313-3315)tcC>tcT	p.S1105S		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	1105	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCTACCACTCCAAGAAAGATT	0.393000														76			45		0	0	0.000781405	0	0
LTBP3	4054	broad.mit.edu	37	11	65320351	65320351	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:65320351G>A	uc001oej.3	-	5	1435	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L	LTBP3_uc010roi.2_Missense_Mutation_p.P272L|LTBP3_uc001oei.3_Missense_Mutation_p.P389L|LTBP3_uc010roj.2_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.P300L|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	389	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTACGGGAGGGGCCTAAACT	0.587000														16			10		0	0	0.00136819	0	0
TNKS2	80351	broad.mit.edu	37	10	93582121	93582121	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr10:93582121T>C	uc001khp.3	+	7	1092	c.795_splice	c.e7+2	p.K265_splice		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	265					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTGGTCAAGGTTAGTGCTCTT	0.343000														70			53		0	0	0.000781405	0	0
OR2L8	391190	broad.mit.edu	37	1	248112261	248112261	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:248112261C>T	uc001idt.1	+	0	102	c.102C>T	c.(100-102)ttC>ttT	p.F34F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	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;0.0152)			TTTTCATTTTCCTGATGGCTC	0.398000														52			81		0	0	0.000781405	0	0
BCL11A	53335	broad.mit.edu	37	2	60689430	60689430	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:60689430G>A	uc002sae.1	-	3	845	c.617C>T	c.(616-618)cCc>cTc	p.P206L	BCL11A_uc002sab.3_Missense_Mutation_p.P206L|BCL11A_uc002sac.3_Missense_Mutation_p.P206L|BCL11A_uc010ypi.2_Missense_Mutation_p.P54L|BCL11A_uc010ypj.2_Missense_Mutation_p.P172L|BCL11A_uc002sad.1_Missense_Mutation_p.P54L|BCL11A_uc002saf.1_Missense_Mutation_p.P172L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	206	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGGGGTCAGGGGACTTCCGTG	0.488000			T	IGH@	B-CLL									230			172		0	0	0.000781405	0	0
MST1P9	11223	broad.mit.edu	37	1	17084074	17084074	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:17084074C>T	uc010ock.2	-	13	1847	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.G216E					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCGCACATGTCCTCGGTGCTT	0.597000														138			14		0	0	0.000422831	0	0
ZNF876P	642280	broad.mit.edu	37	4	248262	248262	+	RNA	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:248262C>T	uc010iba.3	+	1		c.1096C>T								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		GGTCCTCACACCTTACTGAAC	0.368000														8			7		0	0	8.12818e-05	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299736	107299736	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:107299736G>A	uc010rvp.2	-	7	1252	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	408							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTCTTGGTGGGTTTTCTAAAA	0.418000														11			30		0	0	0.000339439	0	0
OR12D3	81797	broad.mit.edu	37	6	29342984	29342984	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:29342984C>T	uc003nme.3	-	0	85	c.81G>A	c.(79-81)ggG>ggA	p.G27G		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TTAAGAAAATCCCAAAGAAGA	0.388000														15			25		0	0	0.00127121	0	0
VRK2	7444	broad.mit.edu	37	2	58359036	58359036	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:58359036C>T	uc002rzo.2	+	11	1515	c.770C>T	c.(769-771)cCt>cTt	p.P257L	VRK2_uc010fcb.2_Missense_Mutation_p.P257L|VRK2_uc002rzt.3_Missense_Mutation_p.P139L|VRK2_uc002rzs.3_Missense_Mutation_p.P257L|VRK2_uc002rzv.3_Missense_Mutation_p.P257L|VRK2_uc010fcd.3_Missense_Mutation_p.P234L|VRK2_uc002rzu.3_Missense_Mutation_p.P257L|VRK2_uc010fcc.3_Missense_Mutation_p.P139L|VRK2_uc002rzp.3_Missense_Mutation_p.P257L|VRK2_uc010ypg.2_Missense_Mutation_p.P257L|VRK2_uc010yph.1_Missense_Mutation_p.P139L	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	257	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						CTGAAGGACCCTGTGGCTGTG	0.478000														20			13		0	0	0.000151284	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112035	64112036	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:64112035_64112036GG>AA	uc001nzy.3	+	13	2071_2072	c.2022_2023GG>AA	c.(2020-2025)acggga>acAAga	p.G675R	CCDC88B_uc009ypo.2_Missense_Mutation_p.G672R|CCDC88B_uc001nzz.1_Missense_Mutation_p.G324R	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	675					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACCTGGCCACGGGACAAGCAGA	0.639000														5			12		0	0	6.4e-05	0	0
LILRP2	79166	broad.mit.edu	37	19	55221914	55221914	+	RNA	SNP	C	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:55221914C>A	uc002qgs.1	+	0		c.2314C>A			LILRP2_uc002qgt.1_Non-coding_Transcript					Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA.																		GACCCTCCCTCTCGGTGCAGC	0.642000														17			10		2.80697e-09	1.66374e-08	0.000978159	1	0
POLA2	23649	broad.mit.edu	37	11	65046372	65046372	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:65046372G>A	uc001odj.3	+	5	965	c.633G>A	c.(631-633)caG>caA	p.Q211Q	POLA2_uc009yqf.1_Silent_p.Q211Q|POLA2_uc010rod.1_Silent_p.Q3Q|POLA2_uc001odk.3_5'Flank	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	211					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CCATGTTTCAGAAGCTCCCAG	0.468000														55			39		0	0	0.00148497	0	0
DDX17	10521	broad.mit.edu	37	22	38884057	38884057	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr22:38884057T>C	uc003avy.4	-	11	1614	c.1511A>G	c.(1510-1512)cAc>cGc	p.H504R	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.H504R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	425					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GCCAATACGGTGCACATAATC	0.478000														54			33		0	0	0.000409698	0	0
GPRC5B	51704	broad.mit.edu	37	16	19884103	19884103	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:19884103A>T	uc010vav.2	-	1	374	c.143T>A	c.(142-144)gTg>gAg	p.V48E	GPRC5B_uc021tef.1_Missense_Mutation_p.V14E|GPRC5B_uc002dgt.3_Missense_Mutation_p.V22E	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	22										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CGAGGTGATCACGAAGAGCAG	0.582000														29			20		0	0	0.00121646	0	0
DCAF11	80344	broad.mit.edu	37	14	24587638	24587638	+	Missense_Mutation	SNP	C	T	T	rs151306695	byFrequency	TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:24587638C>T	uc001wlv.3	+	6	899	c.619C>T	c.(619-621)Cgt>Tgt	p.R207C	DCAF11_uc001wlw.3_Missense_Mutation_p.R207C|DCAF11_uc001wlz.3_Missense_Mutation_p.R107C|DCAF11_uc001wly.3_Missense_Mutation_p.R163C|DCAF11_uc010tny.2_Missense_Mutation_p.R74C|DCAF11_uc001wmc.3_Missense_Mutation_p.R107C|DCAF11_uc001wmb.4_Missense_Mutation_p.R181C|DCAF11_uc001wma.4_Missense_Mutation_p.R207C	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	207			R -> H (in dbSNP:rs3825584).			CUL4 RING ubiquitin ligase complex	protein binding										TGGCCGTTTCCGTAAATTCAA	0.488000														69			69		0	0	0.000781405	0	0
RP1	6101	broad.mit.edu	37	8	55541975	55541975	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:55541975G>A	uc003xsd.1	+	3	5681	c.5533G>A	c.(5533-5535)Gaa>Aaa	p.E1845K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1845					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)			CTGTGCCAAGGAAAGAATAGC	0.403000														19			17		0	0	0.000566183	0	0
TAOK1	57551	broad.mit.edu	37	17	27809280	27809280	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr17:27809280C>T	uc002hdz.2	+	7	823	c.629C>T	c.(628-630)tCt>tTt	p.S210F	TAOK1_uc010wbe.2_Missense_Mutation_p.S210F|TAOK1_uc002heb.1_Missense_Mutation_p.S36F	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	210	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GATGTGTGGTCTCTTGGAATA	0.318000														81			48		0	0	0.000781405	0	0
EFHB	151651	broad.mit.edu	37	3	19924167	19924167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:19924167G>A	uc003cbl.4	-	11	2399	c.2203C>T	c.(2203-2205)Cgt>Tgt	p.R735C	EFHB_uc003cbm.3_Missense_Mutation_p.R605C	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	735					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTGATGCGACGAATTCGGGGA	0.418000														17			15		0	0	0.00074312	0	0
HYAL4	23553	broad.mit.edu	37	7	123508836	123508836	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:123508836T>C	uc003vlc.3	+	2	1147	c.509T>C	c.(508-510)cTt>cCt	p.L170P	HYAL4_uc011knz.2_Missense_Mutation_p.L170P	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	170					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAGAAAGCTTATTTCCGAT	0.403000														42			32		0	0	0.000409698	0	0
GRM3	2913	broad.mit.edu	37	7	86394850	86394850	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr7:86394850G>A	uc003uid.3	+	1	1488	c.389G>A	c.(388-390)gGa>gAa	p.G130E	GRM3_uc010lef.3_Missense_Mutation_p.G128E|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	130					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)	TGTCCTGATGGATCCTATGCC	0.428000														6			6		0	0	0.00116845	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434032	22434032	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr14:22434032G>A	uc021rpm.1	+	1	123	c.85G>A	c.(85-87)Gat>Aat	p.D29N	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		GGTGGAGCAGGATCCTGGACC	0.478000														4			6		0	0	8.12818e-05	0	0
GJA1	2697	broad.mit.edu	37	6	121768668	121768668	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:121768668C>T	uc003pyr.3	+	1	925	c.675C>T	c.(673-675)atC>atT	p.I225I	GJA1_uc011ebo.1_Silent_p.I126I|GJA1_uc011ebp.1_Silent_p.I13I|GJA1_uc021zel.1_Silent_p.I225I	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	225					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	p.I225I(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCTTGAATATCATTGAACTCT	0.522000														28			54		0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493114	173493114	+	Silent	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:173493114G>A	uc001giz.2	-	20	3057	c.2634C>T	c.(2632-2634)ttC>ttT	p.F878F	SLC9C2_uc009wwe.2_Silent_p.F436F	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	878					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TTACCTTGAAGAAGTCAATGA	0.378000														55			60		0	0	0.000781405	0	0
C1orf173	127254	broad.mit.edu	37	1	75086533	75086533	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr1:75086533C>T	uc001dgg.3	-	7	1104	c.885G>A	c.(883-885)ggG>ggA	p.G295G	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.G89G	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	295								p.G295G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCACATTTTTCCCCAAATAGA	0.363000														15			11		0	0	0.000673444	0	0
AHSP	51327	broad.mit.edu	37	16	31539891	31539891	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:31539891G>A	uc002ecj.3	+	2	273	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_016633	NP_057717	Q9NZD4	AHSP_HUMAN	Homo sapiens alpha hemoglobin stabilizing protein (AHSP), mRNA.	63					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						CCCCAAGAGCGAGACAAGGCT	0.547000														36			30		0	0	0.000409698	0	0
C6orf170	221322	broad.mit.edu	37	6	121560234	121560234	+	Silent	SNP	A	G	G			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr6:121560234A>G	uc003pyo.1	-	19	2414	c.2346T>C	c.(2344-2346)atT>atC	p.I782I	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Silent_p.I301I	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	782					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AGCTTCGGTCAATAGGATCCA	0.338000														19			33		0	0	0.000491102	0	0
NETO1	81832	broad.mit.edu	37	18	70451049	70451049	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:70451049C>T	uc002lkw.3	-	6	1016	c.732G>A	c.(730-732)gaG>gaA	p.E244E	NETO1_uc002lky.2_Silent_p.E244E	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	244	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTTTCAAATCCTCCACGGAAC	0.448000														31			39		0	0	0.00148497	0	0
FADS2	9415	broad.mit.edu	37	11	61631244	61631244	+	Silent	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:61631244C>T	uc001nsl.1	+	9	1293	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	FADS2_uc001nsj.2_Silent_p.F359F|FADS2_uc010rlo.1_Silent_p.F350F|FADS2_uc001nsk.3_Silent_p.F381F	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	381				NF -> SL (in Ref. 4; BAB55167).	electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTTAACTTCCAGATTGAGC	0.602000														19			10		0	0	0.00136819	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836030	14836030	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:14836030G>A	uc001rcd.3	-	3	694	c.557C>T	c.(556-558)tCc>tTc	p.S186F	GUCY2C_uc009zhz.2_Missense_Mutation_p.S186F	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	186					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGTGCTCCAGGAATAAGTTTT	0.393000														3			12		0	0	0.000219431	0	0
ADCY8	114	broad.mit.edu	37	8	131916068	131916068	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr8:131916068C>T	uc003ytd.4	-	6	2117	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R	ADCY8_uc010mds.3_Missense_Mutation_p.G621R	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	621					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCCAGGATCCTTCAGTGAAT	0.517000										HNSCC(32;0.087)				23			18		0	0	0.00074312	0	0
NLRC5	84166	broad.mit.edu	37	16	57075940	57075940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr16:57075940C>T	uc021tiu.1	+	17	3203	c.3076C>T	c.(3076-3078)Cag>Tag	p.Q1026*	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Nonsense_Mutation_p.Q831*|NLRC5_uc021tiw.1_Nonsense_Mutation_p.Q831*|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1026					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CCGGCTGGCTCAGCTGCTCCC	0.637000														31			15		0	0	0.00152264	0	0
DNAH7	56171	broad.mit.edu	37	2	196786910	196786910	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr2:196786910delT	uc002utj.4	-	23	3938	c.3837delA	c.(3835-3837)ttafs	p.L1279fs		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1279	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTTTGTTTCTAAATGATTTT	0.294													---	18	---	---	9	---					
SNRK	54861	broad.mit.edu	37	3	43389865	43389875	+	Frame_Shift_Del	DEL	AGTTTTTCTCT	-	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:43389865_43389875delAGTTTTTCTCT	uc003cms.4	+	6	2446_2456	c.2114_2124delAGTTTTTCTCT	c.(2113-2124)aagtttttctctfs	p.K705fs	SNRK_uc003cmt.4_Frame_Shift_Del_p.K705fs|SNRK_uc010hik.3_Frame_Shift_Del_p.K705fs|SNRK_uc011azr.2_Frame_Shift_Del_p.K499fs	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	705					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGCGGCATAAAGTTTTTCTCTGACCACATGG	0.469													---	52	---	---	27	---					
DNAH12	201625	broad.mit.edu	37	3	57509312	57509313	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr3:57509312_57509313insT	uc003dit.2	-	3	457_458	c.276_277insA	c.(274-279)aaaggafs	p.K92fs	DNAH12_uc003diu.2_Frame_Shift_Ins_p.K92fs	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	92	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G93fs*7(3)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GAACTCACTCCTTTTTTTTTCA	0.252													---	62	---	---	7	---					
AFP	174	broad.mit.edu	37	4	74313277	74313285	+	In_Frame_Del	DEL	AATTCATGC	-	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr4:74313277_74313285delAATTCATGC	uc003hgz.1	+	7	989_997	c.942_950delAATTCATGC	c.(940-951)ataattcatgca>ata	p.IHA315del	AFP_uc011cbg.1_In_Frame_Del_p.IHA89del	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	315	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCAATGTATAATTCATGCAGAAAATGAT	0.349									Alpha-Fetoprotein, Hereditary Persistence of				---	32	---	---	9	---					
KDM3B	51780	broad.mit.edu	37	5	137728990	137728991	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr5:137728990_137728991delGC	uc003lcy.1	+	8	2960_2961	c.2760_2761delGC	c.(2758-2763)gagcggfs	p.E920fs	KDM3B_uc010jew.1_Frame_Shift_Del_p.E576fs|KDM3B_uc011cys.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	920					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCGCCTGGAGCGGTACCGGAA	0.510													---	21	---	---	10	---					
LRRC4C	57689	broad.mit.edu	37	11	40137645	40137646	+	Frame_Shift_Ins	INS	-	T	T			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr11:40137645_40137646insT	uc021qgf.1	-	0	197_198	c.197_198insA	c.(196-198)aacfs	p.N66fs	LRRC4C_uc001mxc.1_Frame_Shift_Ins_p.N62fs|LRRC4C_uc001mxd.1_Frame_Shift_Ins_p.N62fs|LRRC4C_uc001mxa.1_Frame_Shift_Ins_p.N66fs|LRRC4C_uc001mxb.1_Frame_Shift_Ins_p.N62fs	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	66	LRRNT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCTCACGCAGGTTTTTCCGAAC	0.525													---	5	---	---	30	---					
OVCH1	341350	broad.mit.edu	37	12	29631833	29631846	+	Splice_Site	DEL	ATGTCTAAACTTGT	-	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr12:29631833_29631846delATGTCTAAACTTGT	uc001rix.1	-	9	996	c.996_splice	c.e9-1	p.I332_splice		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	332	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGCTTTTCCATGTCTAAACTTGTAAATTTTATC	0.318													---	6	---	---	3	---					
LOC100506888	100506888	broad.mit.edu	37	18	44543228	44543229	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr18:44543228_44543229delTG	uc021ujk.1	-	0	1379_1380	c.1143_1144delCA	c.(1141-1146)gacaatfs	p.D381fs	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_001242907	NP_001229836	A6NLF2	EA3L2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C-like (LOC100506888), mRNA.	381	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding										AGTGCGGCATTGTCTTTCTCTG	0.584													---	373	---	---	14	---					
MAP1S	55201	broad.mit.edu	37	19	17845123	17845125	+	In_Frame_Del	DEL	GTG	-	-	rs71791998		TCGA-ER-A19F-06A-11D-A196-08	TCGA-ER-A19F-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f6b4e22-9bf9-4da6-86a9-660f2bafbcae	95330688-090e-49b7-9d53-78b4e5cd1dd3	g.chr19:17845123_17845125delGTG	uc002nhe.1	+	6	3075_3077	c.3066_3068delGTG	c.(3064-3069)acgtgg>acg	p.W1023del	MAP1S_uc010xpv.1_In_Frame_Del_p.W997del	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	1023	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCATGCATACGTGGTACGCAGAG	0.660													---	16	---	---	7	---					
